chr2:214780677:T> 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	chr2:215,645,401-215,645,401
hg38	chr2:214,780,677-214,780,677

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1197delA	NP_000456.2:p.Ser400ValfsTer8
	NR_104212.1:c.1197delA
	NR_104216.1:c.1197delA
	NM_001282548.1:c.159-28122delA
	NM_001282545.1:c.906+291delA
	NM_001282543.1:c.1140delA	NP_001269472.1:p.Ser381ValfsTer8
	NR_104215.1:c.1140delA
	NM_001282549.1:c.364+11620delA
Ensemble	ENST00000260947.9:c.1197delA	ENST00000260947.9:p.Ser400ValfsTer8
	ENST00000421162.2:c.215+16384delA
	ENST00000613374.5:c.159-28122delA
	ENST00000613706.5:c.906+291delA
	ENST00000617164.5:c.1140delA	ENST00000617164.5:p.Ser381ValfsTer8
	ENST00000619009.5:c.364+11620delA
	ENST00000620057.4:c.365-11365delA

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	2014-12-17	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	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.1198del (p.Ser400fs) AND Hereditary cancer-predisposing syndrome	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: rs786203891 dbSNP
Genome: hg38
Position: chr2:214,780,677-214,780,677
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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