chr13:32944627:C>T Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,944,627-32,944,627
hg38 chr13:32,370,490-32,370,490 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.8420C>T NP_000050.2:p.Ser2807Leu
Ensemble ENST00000380152.8:c.8420C>T ENST00000380152.8:p.Ser2807Leu
ENST00000530893.7:c.8051C>T ENST00000530893.7:p.Ser2684Leu
Summary

MGeND

Clinical significance Benign Uncertain significance
Variant entry 5
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 COSM6612533 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 prostate germline MGS000049
(TMGS000113) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Benign 2023/06/29 other not provided MGS000087
(TMGS000173) 		Shigeaki Sunada
Shigeaki Sunada		 Juntendo University
Juntendo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-04 criteria provided, conflicting interpretations hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance 2023-10-06 criteria provided, multiple submitters, no conflicts Breast-ovarian cancer, familial, susceptibility to, 2 germline unknown Detail
Conflicting interpretations of pathogenicity 2023-04-06 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2022-07-26 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-09-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance no assertion criteria provided unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.391 Hereditary Breast and Ovarian Cancer Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) AND Breast-ovarian cancer, familial, susceptibility to, ... ClinVar Detail
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) AND not specified ClinVar Detail
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) AND not provided ClinVar Detail
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) AND Malignant tumor 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
rs55763607 dbSNP
Genome
hg19
Position
chr13:32,944,627-32,944,627
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
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)
121394
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4712918266141653E-5
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