ClinVar Miner

List of variants in gene BRCA1, LOC126862571 studied 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
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	rs62625308	0.00001
NM_007294.4(BRCA1):c.3388del (p.Ser1130fs)	rs886040123
NM_007294.4(BRCA1):c.3397_3398del (p.Leu1133fs)	rs80357577
NM_007294.4(BRCA1):c.3462dup (p.Asp1155fs)	rs80357857
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)	rs80357296
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)	rs80356923
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)	rs80356866
NM_007294.4(BRCA1):c.3932del (p.Asn1311fs)	rs80357504

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