chr2:215645331:TCAC>CAT Detail (hg19) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,645,331-215,645,334
hg38 chr2:214,780,607-214,780,610 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000465.3:c.1264_1267delinsATG NP_000456.2:p.Val422MetfsTer53
NR_104212.1:c.1264_1267delinsATG
NR_104216.1:c.1264_1267delinsATG
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 601593 OMIM
HGNC 952 HGNC
Ensembl ENSG00000138376 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 2014-11-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-07-25 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-05-22 criteria provided, single submitter Familial cancer of breast unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) AND not provided ClinVar Detail
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs) AND Familial cancer 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
rs786203533 dbSNP
Genome
hg19
Position
chr2:215,645,331-215,645,334
Variant Type
snv
Reference Allele
TCAC
Alternative Allele
CAT
Genome browser