chr2:214809500:G>A Detail (hg38) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,674,224-215,674,224 View the variant detail on this assembly version.
hg38 chr2:214,809,500-214,809,500

HGVS

Type Transcript Protein
RefSeq NM_000465.3:c.70C>T NP_000456.2:p.Pro24Ser
NR_104212.1:c.70C>T
NR_104216.1:c.70C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.350
ToMMo:0.351
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.416

Prediction

ClinVar

Clinical Significance 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 tgv10441280 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 2024-02-01 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
<0.001 Malignant tumor of cervix We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, T... BeFree 19482343 Detail
0.003 cervix carcinoma We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, T... BeFree 19482343 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) AND not specified ClinVar Detail
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) AND Familial cancer of breast ClinVar Detail
NM_000465.4(BARD1):c.70C>T (p.Pro24Ser) AND not provided ClinVar Detail
We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, TP53 Pro72Arg (rs1042... DisGeNET Detail
We genotyped 4 single nucleotide polymorphisms (SNPs) with amino acid changes, TP53 Pro72Arg (rs1042... 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
rs1048108 dbSNP
Genome
hg38
Position
chr2:214,809,500-214,809,500
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1196
Mean of sample read depth (HGVD)
146.94
Standard deviation of sample read depth (HGVD)
73.18
Number of reference allele (HGVD)
1555
Number of alternative allele (HGVD)
837
Allele Frequency (HGVD)
0.34991638795986624
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))
rs1048108
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3509
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5881
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
6600
East Asian Allele Counts (ExAC)
2746
East Asian Heterozygous Counts (ExAC)
1784
East Asian Homozygous Counts (ExAC)
481
East Asian Allele Frequency (ExAC)
0.4160606060606061
Chromosome Counts in All Race (ExAC)
88610
Allele Counts in All Race (ExAC)
38783
Heterozygous Counts in All Race (ExAC)
24069
Homozygous Counts in All Race (ExAC)
7357
Allele Frequency in All Race (ExAC)
0.4376819772034759
Genome browser