chr13:32362573:G>C Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,936,710-32,936,710 View the variant detail on this assembly version.
hg38 chr13:32,362,573-32,362,573

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.7856G>C NP_000050.2:p.Trp2619Ser
Ensemble ENST00000380152.8:c.7856G>C ENST00000380152.8:p.Trp2619Ser
ENST00000530893.7:c.7487G>C ENST00000530893.7:p.Trp2496Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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
Uncertain significance 2012-07-13 no assertion criteria provided Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Uncertain significance 2019-04-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.391 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.7856G>C (p.Trp2619Ser) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.7856G>C (p.Trp2619Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs397507941 dbSNP
Genome
hg38
Position
chr13:32,362,573-32,362,573
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Genome browser