chr2:215610566:G>A Detail (hg19) (BARD1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:215,610,566-215,610,566
hg38	chr2:214,745,842-214,745,842 View the variant detail on this assembly version.

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1690C>T	NP_000456.2:p.Gln564Ter
	NR_104212.1:c.1690C>T
	NR_104216.1:c.1690C>T
	NM_001282548.1:c.280C>T	NP_001269477.1:p.Gln94Ter
	NM_001282545.1:c.1282C>T	NP_001269474.1:p.Gln428Ter
	NM_001282543.1:c.1633C>T	NP_001269472.1:p.Gln545Ter
	NR_104215.1:c.1633C>T
	NM_001282549.1:c.365-15334C>T
Ensemble	ENST00000260947.9:c.1690C>T	ENST00000260947.9:p.Gln564Ter
	ENST00000421162.2:c.337C>T	ENST00000421162.2:p.Gln113Ter
	ENST00000613374.5:c.280C>T	ENST00000613374.5:p.Gln94Ter
	ENST00000613706.5:c.1282C>T	ENST00000613706.5:p.Gln428Ter
	ENST00000617164.5:c.1633C>T	ENST00000617164.5:p.Gln545Ter
	ENST00000619009.5:c.365-15334C>T
	ENST00000620057.4:c.*356C>T

Summary

MGeND

Clinical significance
Variant entry
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	Pathogenic
Review star
Show details

Links

BARD1

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	2023-11-06	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-26	criteria provided, conflicting interpretations	Familial cancer of breast	germline unknown	Detail
Pathogenic	2024-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2019-12-10	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2015-02-01	no assertion criteria provided		germline	Detail
Pathogenic	2019-06-11	no assertion criteria provided	Breast and/or ovarian cancer	germline	Detail
Pathogenic	2023-02-21	no assertion criteria provided	endometrial carcinoma	germline	Detail
Pathogenic	2023-07-12	criteria provided, single submitter	BARD1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Triple-Negative Breast Cancer Finding	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND Endometrial carcinoma	ClinVar	Detail
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) AND BARD1-related disorder	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: rs587780021 dbSNP
Genome: hg19
Position: chr2:215,610,566-215,610,566
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121390
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.9427465194826595E-5

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