chr2:214730443:G> Detail (hg38) (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	chr2:215,595,167-215,595,167
hg38	chr2:214,730,443-214,730,443

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1969delC	NP_000456.2:p.Pro657HisfsTer57
	NR_104212.1:c.1969delC
	NR_104216.1:c.1969delC
	NM_001282548.1:c.559delC	NP_001269477.1:p.Pro187HisfsTer57
	NM_001282545.1:c.1561delC	NP_001269474.1:p.Pro521HisfsTer57
	NM_001282543.1:c.1912delC	NP_001269472.1:p.Pro638HisfsTer57
	NR_104215.1:c.1912delC
	NM_001282549.1:c.430delC	NP_001269478.1:p.Pro144HisfsTer57
Ensemble	ENST00000260947.9:c.1969delC	ENST00000260947.9:p.Pro657HisfsTer57
	ENST00000421162.2:c.616delC	ENST00000421162.2:p.Pro206HisfsTer57
	ENST00000613374.5:c.559delC	ENST00000613374.5:p.Pro187HisfsTer57
	ENST00000613706.5:c.1561delC	ENST00000613706.5:p.Pro521HisfsTer57
	ENST00000617164.5:c.1912delC	ENST00000617164.5:p.Pro638HisfsTer57
	ENST00000619009.5:c.430delC	ENST00000619009.5:p.Pro144HisfsTer57
	ENST00000620057.4:c.*635delC

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	2017-07-10	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-05-25	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.1970del (p.Pro657fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.1970del (p.Pro657fs) 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: rs786203739 dbSNP
Genome: hg38
Position: chr2:214,730,443-214,730,443
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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