chr13:32339003:G>C Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,913,140-32,913,140 View the variant detail on this assembly version.
hg38 chr13:32,339,003-32,339,003

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.4648G>C NP_000050.2:p.Glu1550Gln
Ensemble ENST00000380152.8:c.4648G>C ENST00000380152.8:p.Glu1550Gln
ENST00000530893.7:c.4279G>C ENST00000530893.7:p.Glu1427Gln
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 Conflicting classifications of pathogenicity
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 2023-08-28 criteria provided, multiple submitters, no conflicts Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Uncertain significance 2017-04-20 criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2024-02-20 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2021-10-28 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Breast-ovarian cancer, familial, susceptibility to, 2 NA CLINVAR Detail
0.174 Breast Cancer, Familial NA CLINVAR Detail
0.560 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET 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
rs80358695 dbSNP
Genome
hg38
Position
chr13:32,339,003-32,339,003
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8630
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)
120552
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.295175525914129E-6
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