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BRCA1

Basic information

Official gene symbol
BRCA1 DNA repair associated
Conventional gene symbol
BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4, PPP1R53, PSCP, RNF53
Classification
Tumor suppressor gene
Official gene ID
672(Refseq)
672 (KEGG)
Transcript ID
NM_007294
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
17q21.31 (chr17:41197695..41276113, complement)
Protein length
1,863

Chromosome ideogram

Pathway map

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr17:41244214 C A 10 / 23 p.E1112* c.3334G>T COSV104398344 Tier2 1 / 78
chr17:41244258 CTT C 10 / 23 p.L1098fs c.3288_3289delAA   Tier2 1 / 78
chr17:41245354 C A 10 / 23 p.E732* c.2194G>T   Tier2 1 / 78
chr17:41245390 C A 10 / 23 p.E720* c.2158G>T COSV58797263 Tier2 2 / 78
chr17:41245759 C A 10 / 23 p.E597* c.1789G>T COSV58783503 Tier2 1 / 78
chr17:41245830 G T 10 / 23 p.S573* c.1718C>A   Tier2 1 / 78
chr17:41246098 C A 10 / 23 p.G484* c.1450G>T   Tier2 1 / 78
chr17:41222950 C A 15 / 23 p.E1661* c.4981G>T   Tier2 1 / 78
chr17:41209080 G A 19 / 23 p.Q1756* c.5266C>T   Tier2 1 / 78
chr17:41197776 C T 23 / 23 p.W1837* c.5511G>A   Tier2 1 / 78