chr13:32326614:G>C Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,900,751-32,900,751 View the variant detail on this assembly version.
hg38 chr13:32,326,614-32,326,614

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.631+1G>C
Ensemble ENST00000380152.8:c.631+1G>C
ENST00000530893.7:c.262+1G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600185 OMIM
HGNC 1101 HGNC
Ensembl ENSG00000139618 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-11-30 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2022-12-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian cancer Rucaparib C Predictive Supports Sensitivity/Response Somatic 27908594 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... CIViC Evidence Detail
NM_000059.4(BRCA2):c.631+1G>C AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.631+1G>C AND Hereditary cancer-predisposing syndrome ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs81002897 dbSNP
Genome
hg38
Position
chr13:32,326,614-32,326,614
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
V211L
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1250
Genome browser