chr2:214728861:TG> 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	chr2:215,593,585-215,593,586
hg38	chr2:214,728,861-214,728,862

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.2148_2149delCA	NP_000456.2:p.Ile717GlnfsTer12
	NR_104212.1:c.2148_2149delCA
	NR_104216.1:c.2148_2149delCA
	NM_001282548.1:c.738_739delCA	NP_001269477.1:p.Ile247GlnfsTer12
	NM_001282545.1:c.1740_1741delCA	NP_001269474.1:p.Ile581GlnfsTer12
	NM_001282543.1:c.2091_2092delCA	NP_001269472.1:p.Ile698GlnfsTer12
	NR_104215.1:c.2091_2092delCA
	NM_001282549.1:c.609_610delCA	NP_001269478.1:p.Ile204GlnfsTer12
Ensemble	ENST00000260947.9:c.2148_2149delCA	ENST00000260947.9:p.Ile717GlnfsTer12
	ENST00000421162.2:c.795_796delCA	ENST00000421162.2:p.Ile266GlnfsTer12
	ENST00000613374.5:c.738_739delCA	ENST00000613374.5:p.Ile247GlnfsTer12
	ENST00000613706.5:c.1740_1741delCA	ENST00000613706.5:p.Ile581GlnfsTer12
	ENST00000617164.5:c.2091_2092delCA	ENST00000617164.5:p.Ile698GlnfsTer12
	ENST00000619009.5:c.609_610delCA	ENST00000619009.5:p.Ile204GlnfsTer12
	ENST00000620057.4:c.815_814delCA

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	2022-02-10	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic Likely pathogenic	2023-07-21	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Likely pathogenic	2023-03-30	criteria provided, single submitter	not provided	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.2148_2149del (p.Ile717fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) AND not provided	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: rs786203811 dbSNP
Genome: hg38
Position: chr2:214,728,861-214,728,862
Variant Type: snv
Reference Allele: TG
Alternative Allele: -

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