chr13:32339950:AT>C Detail (hg38) (BRCA2)

Information

Genome

Assembly Position
hg19 chr13:32,914,087-32,914,088 View the variant detail on this assembly version.
hg38 chr13:32,339,950-32,339,951

HGVS

Type Transcript Protein
RefSeq NM_000059.3:c.5595_5596delinsC NP_000050.2:p.Phe1866LeufsTer8
Ensemble ENST00000380152.8:c.5595_5596delinsC ENST00000380152.8:p.Phe1866LeufsTer8
ENST00000530893.7:c.5226_5227delinsC ENST00000530893.7:p.Phe1743LeufsTer8
Summary

MGeND

Clinical significance
Variant entry
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-08-01 no assertion criteria provided hereditary breast ovarian cancer syndrome germline Detail
Pathogenic 2016-09-08 reviewed by expert panel Breast-ovarian cancer, familial, susceptibility to, 2 germline 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.5595_5596delinsC (p.Phe1866fs) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_000059.4(BRCA2):c.5595_5596delinsC (p.Phe1866fs) AND Breast-ovarian cancer, familial, susceptibil... 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
rs797044987 dbSNP
Genome
hg38
Position
chr13:32,339,950-32,339,951
Variant Type
snv
Reference Allele
AT
Alternative Allele
C
Genome browser