chr2:215645464:C>G Detail (hg19) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,645,464-215,645,464
hg38 chr2:214,780,740-214,780,740 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000465.3:c.1134G>C NP_000456.2:p.Arg378Ser
NR_104212.1:c.1134G>C
NR_104216.1:c.1134G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.363
ToMMo:0.361
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.368

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 tgv10440101 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 unknown Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign 2022-04-19 criteria provided, single submitter hereditary breast ovarian cancer syndrome 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.1134G>C (p.Arg378Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) AND not specified ClinVar Detail
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) AND Familial cancer of breast ClinVar Detail
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) AND not provided ClinVar Detail
NM_000465.4(BARD1):c.1134G>C (p.Arg378Ser) AND Hereditary breast ovarian cancer syndrome 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
rs2229571 dbSNP
Genome
hg19
Position
chr2:215,645,464-215,645,464
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
128.57
Standard deviation of sample read depth (HGVD)
59.23
Number of reference allele (HGVD)
1540
Number of alternative allele (HGVD)
879
Allele Frequency (HGVD)
0.36337329474989666
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))
rs2229571
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3615
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6058
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
3179
East Asian Heterozygous Counts (ExAC)
1997
East Asian Homozygous Counts (ExAC)
591
East Asian Allele Frequency (ExAC)
0.3683661645422943
Chromosome Counts in All Race (ExAC)
121284
Allele Counts in All Race (ExAC)
66548
Heterozygous Counts in All Race (ExAC)
28546
Homozygous Counts in All Race (ExAC)
19001
Allele Frequency in All Race (ExAC)
0.5486956234952673
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