ClinVar Miner

Variants with conflicting interpretations studied for Multiple myeloma

Coded as:
Minimum review status of the submission for Multiple myeloma: Y axis collection method of the submission for Multiple myeloma:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1 47 2 71 0 5 23 93

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Multiple myeloma pathogenic likely pathogenic uncertain significance drug response risk factor other
pathogenic 2 2 0 0 0 0
likely pathogenic 70 0 23 2 2 1

Condition to condition summary #

Total conditions: 69
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 4 0 33 0 0 0 33
Li-Fraumeni syndrome 0 9 0 8 0 0 15 23
Cutaneous melanoma 0 7 0 20 0 0 0 20
Hereditary cancer-predisposing syndrome 0 10 0 11 0 0 8 18
Neoplasm of the large intestine 0 105 0 16 0 0 0 16
Non-small cell lung cancer 0 3 0 14 0 0 0 14
Acute myeloid leukemia 0 48 0 8 0 0 0 8
Rasopathy 0 0 0 7 0 0 1 8
Costello syndrome 0 1 0 6 0 0 0 6
Li-Fraumeni syndrome 1 0 0 0 4 0 0 2 6
Epidermal nevus 0 0 0 5 0 0 0 5
Juvenile myelomonocytic leukemia 0 0 0 5 0 0 0 5
Cardio-facio-cutaneous syndrome 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 3 0 0 0 3
Lung adenocarcinoma 0 118 0 3 0 0 0 3
Lung cancer 0 0 0 3 0 0 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Non-Hodgkin lymphoma 0 15 0 3 0 0 0 3
Noonan syndrome 0 0 0 3 0 0 0 3
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 2 0 0 0 2
Breast adenocarcinoma 0 0 0 2 0 0 0 2
Carcinoma 0 0 0 2 0 0 0 2
Carcinoma of colon 0 1 0 2 0 0 0 2
Cutaneous malignant melanoma 3 0 0 0 1 0 2 0 2
Epidermal nevus syndrome 0 0 0 2 0 0 0 2
Neoplasm of the thyroid gland 0 10 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
Ovarian Neoplasms 0 23 0 2 0 0 0 2
not specified 0 0 0 2 0 0 0 2
Achondroplasia 0 0 0 1 0 0 0 1
Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Carcinoma of cervix; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Bladder cancer, somatic; Hypochondroplasia; Epidermal nevus; Severe achondroplasia with developmental delay and acanthosis nigricans; Malignant tumor of testis; Carcinoma of colon 0 0 0 1 0 0 0 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Astrocytoma, low-grade, somatic 0 0 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 0 0 0 1 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 0 0 0 1 0 0 0 1
D-2-hydroxyglutaric aciduria 2 0 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma 0 0 0 0 0 1 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Gastrointestinal stroma tumor 0 0 0 1 0 0 0 1
Germ cell tumor, nonseminomatous 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Hereditary cutaneous melanoma 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 1 0 0 0 1
Keratosis, seborrheic 0 0 0 1 0 0 0 1
Macroglobulinemia, waldenstrom, somatic 0 0 0 1 0 0 0 1
Malignant Colorectal Neoplasm 0 0 0 1 0 0 0 1
Multiple myeloma 140 0 0 1 0 0 0 1
Myd88 deficiency 0 0 0 0 0 0 1 1
Myelodysplastic syndrome progressed to acute myeloid leukemia 0 0 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
NEVUS SPILUS, SOMATIC 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Noonan syndrome 6 0 0 0 1 0 0 0 1
PARP Inhibitor response 0 0 0 0 0 1 0 1
Papillary thyroid carcinoma 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
RAS-associated autoimmune leukoproliferative disorder 0 0 0 1 0 0 0 1
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 0 0 1 0 0 0 1
Skeletal dysplasia with acanthosis nigricans 0 0 0 1 0 0 0 1
Skeletal dysplasia; Short stature; Growth delay; Short ribs; Narrow chest; Small for gestational age; Bell-shaped thorax; Femoral bowing; Bowed humerus; Disproportionate short-limb short stature; Lethal short-limbed short stature; Lower limb undergrowth; Upper limb undergrowth 0 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 89 0 1 0 0 0 1
Squamous cell lung carcinoma 0 74 0 1 0 0 0 1
Thanatophoric dysplasia type 1 0 0 1 1 0 0 0 1
Thanatophoric dysplasia, type 2 0 0 1 0 0 0 0 1
Transitional cell carcinoma of the bladder 0 74 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 93
Download table as spreadsheet
HGVS dbSNP
NM_000075.3(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.3(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000142.4(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_002168.3(IDH2):c.418C>T (p.Arg140Trp) rs267606870
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.419G>T (p.Arg140Leu) rs121913502
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) rs387907272
NM_002524.3(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.3(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.3(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.3(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.3(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.3(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.3(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.3(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.4(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.4(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_004333.4(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.4(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.4(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.4(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.4(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.4(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.4(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.5(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004985.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.2(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.3(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.3(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_033360.3(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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