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BRCA2

Basic information

Official gene symbol
BRCA2 DNA repair associated
Conventional gene symbol
BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11
Classification
Tumor suppressor gene
Official gene ID
675(Refseq)
675 (KEGG)
Transcript ID
NM_000059
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
13q13.1 (chr13:32890598..32972907)
Protein length
3,418

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
chr13:32890632 TTGAAATTTTTAAGACACGCTGCA T 2 / 27 p.F12fs c.36_58delTGAAATTTTTAAGACACGCTGCA   Tier2 1 / 156
chr13:32890633 TGAAATTTTTAAGACACGCTGCA T 2 / 27 p.E13fs c.37_58delGAAATTTTTAAGACACGCTGCA   Tier2 1 / 156
chr13:32893291 G T 3 / 27 p.E49* c.145G>T   Tier2 1 / 156
chr13:32893393 G T 3 / 27 p.E83* c.247G>T   Tier2 1 / 156
chr13:32893435 G T 3 / 27 p.E97* c.289G>T COSV66461936 Tier2 1 / 156
chr13:32906673 C A 10 / 27 p.S353* c.1058C>A COSV101204193 Tier2 1 / 156
chr13:32906996 G T 10 / 27 p.E461* c.1381G>T   Tier2 1 / 156
chr13:32910437 C T 11 / 27 p.Q649* c.1945C>T   Tier2 1 / 156
chr13:32912453 GA G 11 / 27 p.D1321fs c.3962delA   Tier2 1 / 156
chr13:32912858 G T 11 / 27 p.E1456* c.4366G>T   Tier2 1 / 156
chr13:32913176 C T 11 / 27 p.Q1562* c.4684C>T COSV101204461 Tier2 1 / 156
chr13:32913593 C T 11 / 27 p.Q1701* c.5101C>T   Tier2 1 / 156
chr13:32913651 C A 11 / 27 p.S1720* c.5159C>A   Tier2 1 / 156
chr13:32914056 C G 11 / 27 p.S1855* c.5564C>G   Tier2 1 / 156
chr13:32914800 C G 11 / 27 p.S2103* c.6308C>G   Tier2 1 / 156
chr13:32914877 G T 11 / 27 p.E2129* c.6385G>T COSV66449661 Tier2 2 / 156
chr13:32915135 TACTC T 11 / 27 p.Y2215fs c.6644_6647delACTC   Tier2 1 / 156
chr13:32915264 G T 11 / 27 p.E2258* c.6772G>T   Tier2 1 / 156
chr13:32931937 CTT C 16 / 27 p.F2560fs c.7679_7680delTT   Tier2 1 / 156
chr13:32932019 G A 16 / 27 p.W2586* c.7758G>A COSV66462892 Tier2 1 / 156
chr13:32968936 AGCAAC A 25 / 27 p.S3123fs c.9368_9372delGCAAC   Tier2 1 / 156
chr13:32968967 C G 25 / 27 p.S3133* c.9398C>G   Tier2 1 / 156
chr13:32972663 C A 27 / 27 p.S3338* c.10013C>A   Tier2 1 / 156