chr2:215632255:C>T Detail (hg19) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,632,255-215,632,255
hg38 chr2:214,767,531-214,767,531 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000465.3:c.1519G>A NP_000456.2:p.Val507Met
NR_104212.1:c.1519G>A
NR_104216.1:c.1519G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.261
ToMMo:0.361
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.369

Prediction

ClinVar

Clinical Significance Benign Likely benign
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 tgv10439530 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2014-11-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign Likely benign 2023-11-29 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 breast carcinoma Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of ... BeFree 14550946 Detail
0.008 breast carcinoma BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. BeFree 16333312 Detail
0.121 Breast Cancer, Familial These results suggest that the contribution of the BARD1 germline variants to br... BeFree 16333312 Detail
0.114 Malignant neoplasm of breast BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. BeFree 16333312 Detail
0.114 Malignant neoplasm of breast Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of ... BeFree 14550946 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) AND not specified ClinVar Detail
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) AND Familial cancer of breast ClinVar Detail
NM_000465.4(BARD1):c.1519G>A (p.Val507Met) AND not provided ClinVar Detail
Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women... DisGeNET Detail
BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. DisGeNET Detail
These results suggest that the contribution of the BARD1 germline variants to breast cancer predispo... DisGeNET Detail
BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition. DisGeNET Detail
Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women... 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
rs2070094 dbSNP
Genome
hg19
Position
chr2:215,632,255-215,632,255
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1164
Mean of sample read depth (HGVD)
116.57
Standard deviation of sample read depth (HGVD)
50.76
Number of reference allele (HGVD)
1720
Number of alternative allele (HGVD)
608
Allele Frequency (HGVD)
0.2611683848797251
Gene Symbol (HGVD)
BARD1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2070094
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3611
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6052
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8634
East Asian Allele Counts (ExAC)
3182
East Asian Heterozygous Counts (ExAC)
1996
East Asian Homozygous Counts (ExAC)
593
East Asian Allele Frequency (ExAC)
0.3685429696548529
Chromosome Counts in All Race (ExAC)
121256
Allele Counts in All Race (ExAC)
45875
Heterozygous Counts in All Race (ExAC)
28091
Homozygous Counts in All Race (ExAC)
8892
Allele Frequency in All Race (ExAC)
0.3783317938906116
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