chr2:215646102:G>A Detail (hg19) (BARD1)

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

Genome

Assembly	Position
hg19	chr2:215,646,102-215,646,102
hg38	chr2:214,781,378-214,781,378 View the variant detail on this assembly version.

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.496C>T	NP_000456.2:p.Gln166Ter
	NR_104212.1:c.496C>T
	NR_104216.1:c.496C>T
	NM_001282548.1:c.158+28034C>T
	NM_001282545.1:c.496C>T	NP_001269474.1:p.Gln166Ter
	NM_001282543.1:c.439C>T	NP_001269472.1:p.Gln147Ter
	NR_104215.1:c.439C>T
	NM_001282549.1:c.364+10919C>T
Ensemble	ENST00000260947.9:c.496C>T	ENST00000260947.9:p.Gln166Ter
	ENST00000421162.2:c.215+15683C>T
	ENST00000613374.5:c.158+28034C>T
	ENST00000613706.5:c.496C>T	ENST00000613706.5:p.Gln166Ter
	ENST00000617164.5:c.439C>T	ENST00000617164.5:p.Gln147Ter
	ENST00000619009.5:c.364+10919C>T
	ENST00000620057.4:c.364+10919C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	2021-09-09	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2015-05-29	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-10	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	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.496C>T (p.Gln166Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter) AND Familial cancer of breast	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: rs786202500 dbSNP
Genome: hg19
Position: chr2:215,646,102-215,646,102
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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