chr13:32890599:T>G Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,890,599-32,890,599
hg38 chr13:32,316,462-32,316,462 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.2T>G NP_000050.2:p.?
Ensemble ENST00000713680.1:c.2T>G ENST00000713680.1:p.?
ENST00000713678.1:c.2T>G ENST00000713678.1:p.?
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 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-02-06 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome unknown germline Detail
Pathogenic 2023-04-24 criteria provided, multiple submitters, no conflicts Breast-ovarian cancer, familial, susceptibility to, 2 not provided germline Detail
Pathogenic 2022-11-08 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-16 criteria provided, single submitter not provided unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
ovarian cancer Rucaparib C Predictive Supports Sensitivity/Response Somatic 27908594 Detail
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
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... CIViC Evidence Detail
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) AND Breast-ovarian cancer, familial, susceptibility to, 2 ClinVar Detail
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) AND not provided 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
rs80358547 dbSNP
Genome
hg19
Position
chr13:32,890,599-32,890,599
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8608
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)
119920
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)
8.338892595063375E-6
Variant (CIViC) (CIViC Variant)
M1R
Transcript 1 (CIViC Variant)
ENST00000544455.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1247
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