ClinVar Miner

List of variants in gene APC reported as pathogenic for gastric cancer

Included ClinVar conditions (22):

Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer
Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer; LADD syndrome 1
Autoimmune lymphoproliferative syndrome type 2A; Gastric cancer; Lymphoma, non-Hodgkin, familial
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach
Familial adenomatous polyposis 1; Gastric adenocarcinoma and proximal polyposis of the stomach; APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis 2; Gastric cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Gastric adenocarcinoma
Gastric adenocarcinoma and proximal polyposis of the stomach
Gastric cancer
Hereditary diffuse gastric adenocarcinoma
Hereditary diffuse gastric adenocarcinoma; CDH1-related diffuse gastric and lobular breast cancer syndrome
Hereditary diffuse gastric adenocarcinoma; Malignant tumor of breast
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	rs145945630	0.00003
NM_000038.6(APC):c.3149del (p.Ala1050fs)	rs730882135	0.00001
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	rs62619935	0.00001
NM_000038.6(APC):c.1042C>T (p.Arg348Ter)	rs1314843920
NM_000038.6(APC):c.1380del (p.Glu461fs)
NM_000038.6(APC):c.147_150del (p.Lys49fs)	rs587781694
NM_000038.6(APC):c.1612G>T (p.Glu538Ter)
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)	rs137854573
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)	rs1554083132
NM_000038.6(APC):c.1809dup (p.Ala604fs)
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)	rs137854575
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)	rs137854571
NM_000038.6(APC):c.3359G>A (p.Gly1120Glu)	rs28933379
NM_000038.6(APC):c.3901dup (p.Thr1301fs)	rs1554085382
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)	rs121913224
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter)	rs1114167596
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)	rs387906236
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs)	rs1554086196
NM_000038.6(APC):c.4dup (p.Ala2fs)
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)	rs1270783041
NM_000038.6(APC):c.5818del (p.Ile1940fs)
NM_000038.6(APC):c.643C>T (p.Gln215Ter)	rs137854577
NM_000038.6(APC):c.6503dup (p.Pro2170fs)
NM_000038.6(APC):c.74_75del (p.Gln25fs)	rs1554067124
NM_000038.6(APC):c.8246C>G (p.Ser2749Ter)
NM_000038.6(APC):c.835-17A>G	rs1580511131
NM_000038.6(APC):c.994C>T (p.Arg332Ter)	rs775126020

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