chr2:215593483:G>A Detail (hg19) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,593,483-215,593,483
hg38 chr2:214,728,759-214,728,759 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000465.3:c.2251C>T NP_000456.2:p.Arg751Trp
NR_104212.1:c.2251C>T
NR_104216.1:c.2251C>T
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
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 Uncertain significance
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-02-24 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-07-19 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-12-26 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Uncertain significance 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND not provided ClinVar Detail
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND Familial cancer of breast ClinVar Detail
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND Hereditary breast ovarian cancer syndrome ClinVar 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
rs139785364 dbSNP
Genome
hg19
Position
chr2:215,593,483-215,593,483
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121296
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)
1.648858989579211E-5
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