chr13:32376769:C>G Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,950,906-32,950,906 View the variant detail on this assembly version.
hg38 chr13:32,376,769-32,376,769

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.8732C>G NP_000050.2:p.Ala2911Gly
Ensemble ENST00000380152.8:c.8732C>G ENST00000380152.8:p.Ala2911Gly
ENST00000530893.7:c.8363C>G ENST00000530893.7:p.Ala2788Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 2023-11-29 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2023-02-10 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2018-12-12 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-08-06 criteria provided, single submitter Familial cancer of breast unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND Familial cancer of breast 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
rs80359130 dbSNP
Genome
hg38
Position
chr13:32,376,769-32,376,769
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8504
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119280
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.676727028839705E-5
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