chr13:32363211:C>T Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,937,348-32,937,348 View the variant detail on this assembly version.
hg38 chr13:32,363,211-32,363,211

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.8009C>T NP_000050.2:p.Ser2670Leu
Ensemble ENST00000380152.8:c.8009C>T ENST00000380152.8:p.Ser2670Leu
ENST00000530893.7:c.7640C>T ENST00000530893.7:p.Ser2547Leu
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 COSM3417531 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline Detail
Likely pathogenic 2018-03-30 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 2 germline unknown Detail
Pathogenic 2023-04-06 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-12-22 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2016-12-14 criteria provided, single submitter Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
Uncertain significance 2014-01-31 no assertion criteria provided not specified germline Detail
Pathogenic 2019-09-01 no assertion criteria provided Breast-ovarian cancer, familial, susceptibility to, 2,hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2019-09-01 no assertion criteria provided Breast-ovarian cancer, familial, susceptibility to, 2,hereditary breast ovarian cancer syndrome germline Detail
Likely pathogenic no assertion criteria provided unknown Detail
Pathogenic Likely pathogenic 2022-12-13 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma unknown Detail
Pathogenic 2021-12-14 criteria provided, single submitter Pancreatic cancer, susceptibility to, 2,Familial cancer of breast,Fanconi anemia complementation group D1,Wilms tumor 1,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,medulloblastoma 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
0.128 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND Malignant tumor of breast ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND Familial cancer of breast ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions ClinVar Detail
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) AND multiple conditions 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
rs80359035 dbSNP
Genome
hg38
Position
chr13:32,363,211-32,363,211
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser