chr2:215595204:TA> 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	chr2:215,595,204-215,595,205
hg38	chr2:214,730,480-214,730,481

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1931_1932delTA	NP_000456.2:p.Cys645Ter
	NR_104212.1:c.1931_1932delTA
	NR_104216.1:c.1931_1932delTA
	NM_001282548.1:c.521_522delTA	NP_001269477.1:p.Cys175Ter
	NM_001282545.1:c.1523_1524delTA	NP_001269474.1:p.Cys509Ter
	NM_001282543.1:c.1874_1875delTA	NP_001269472.1:p.Cys626Ter
	NR_104215.1:c.1874_1875delTA
	NM_001282549.1:c.392_393delTA	NP_001269478.1:p.Cys132Ter
Ensemble	ENST00000260947.9:c.1931_1932delTA	ENST00000260947.9:p.Cys645Ter
	ENST00000421162.2:c.578_579delTA	ENST00000421162.2:p.Cys194Ter
	ENST00000613374.5:c.521_522delTA	ENST00000613374.5:p.Cys175Ter
	ENST00000613706.5:c.1523_1524delTA	ENST00000613706.5:p.Cys509Ter
	ENST00000617164.5:c.1874_1875delTA	ENST00000617164.5:p.Cys626Ter
	ENST00000619009.5:c.392_393delTA	ENST00000619009.5:p.Cys132Ter
	ENST00000620057.4:c.598_597delTA

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 Likely pathogenic	2022-06-21	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-12-18	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Likely pathogenic	2023-09-19	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2022-12-05	criteria provided, single submitter		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.1932_1933del (p.Val644_Cys645insTer) AND Hereditary cancer-predisposing syndrom...	ClinVar	Detail
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) AND Malignant tumor 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: rs587782504 dbSNP
Genome: hg19
Position: chr2:215,595,204-215,595,205
Variant Type: snv
Reference Allele: TA
Alternative Allele: -

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