chr13:32911300:ACAA> Detail (hg19) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,911,300-32,911,303
hg38 chr13:32,337,163-32,337,166 

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.2808_2811delACAA NP_000050.2:p.Ala938ProfsTer21
Ensemble ENST00000544455.6:c.2808_2811delACAA ENST00000544455.6:p.Ala938ProfsTer21
ENST00000530893.7:c.2439_2442delACAA ENST00000530893.7:p.Ala815ProfsTer21
Summary

MGeND

Clinical significance Pathogenic
Variant entry 6
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 COSM219056 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Pathogenic 2021/03/19 breast germline MGS000048
(TMGS000112) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2016-04-22 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline not provided somatic unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts hereditary breast ovarian cancer syndrome germline unknown Detail
Pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-02-06 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2020-04-02 criteria provided, multiple submitters, no conflicts Breast-ovarian cancer, familial, susceptibility to, 1 germline Detail
Pathogenic 2015-11-01 criteria provided, multiple submitters, no conflicts Breast neoplasm germline Detail
Pathogenic 2023-05-30 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline Detail
Pathogenic 2023-04-25 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Pathogenic no assertion criteria provided unknown Detail
Pathogenic 2024-02-16 criteria provided, multiple submitters, no conflicts BRCA2-related disorder germline Detail
Pathogenic 2023-02-21 no assertion criteria provided uterine corpus cancer germline Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
not provided no assertion provided hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1 unknown Detail
not provided no assertion provided hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1 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_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Breast-ovarian cancer, familial, susceptibilit... ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND not provided ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Breast-ovarian cancer, familial, susceptibilit... ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Breast neoplasm ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Familial cancer of breast ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Breast and/or ovarian cancer ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Malignant tumor of breast ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND BRCA2-related disorder ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Uterine corpus cancer ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND Gastric cancer ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND multiple conditions ClinVar Detail
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) AND multiple conditions 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
rs80359351 dbSNP
Genome
hg19
Position
chr13:32,911,300-32,911,303
Variant Type
snv
Reference Allele
ACAA
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8646
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)
120744
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6563970052342144E-5
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