chr13:32914356:C>G Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,914,356-32,914,356
hg38 chr13:32,340,219-32,340,219 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.5864C>G NP_000050.2:p.Ser1955Ter
Ensemble ENST00000380152.8:c.5864C>G ENST00000380152.8:p.Ser1955Ter
ENST00000544455.6:c.5864C>G ENST00000544455.6:p.Ser1955Ter
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-26 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline Detail
Pathogenic 2023-08-28 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-04-08 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2022-03-21 criteria provided, single submitter Familial cancer of breast unknown 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
0.391 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
0.128 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter) AND Familial cancer of breast ClinVar Detail
NA DisGeNET 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
rs80358815 dbSNP
Genome
hg19
Position
chr13:32,914,356-32,914,356
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser