chr2:215609876:AT> 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	chr2:215,609,876-215,609,877
hg38	chr2:214,745,152-214,745,153

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1817_1818delAT	NP_000456.2:p.His606ArgfsTer6
	NR_104212.1:c.1817_1818delAT
	NR_104216.1:c.1817_1818delAT
	NM_001282548.1:c.407_408delAT	NP_001269477.1:p.His136ArgfsTer6
	NM_001282545.1:c.1409_1410delAT	NP_001269474.1:p.His470ArgfsTer6
	NM_001282543.1:c.1760_1761delAT	NP_001269472.1:p.His587ArgfsTer6
	NR_104215.1:c.1760_1761delAT
	NM_001282549.1:c.365-14645_365-14644delAT
Ensemble	ENST00000260947.9:c.1817_1818delAT	ENST00000260947.9:p.His606ArgfsTer6
	ENST00000421162.2:c.464_465delAT	ENST00000421162.2:p.His155ArgfsTer6
	ENST00000613374.5:c.407_408delAT	ENST00000613374.5:p.His136ArgfsTer6
	ENST00000613706.5:c.1409_1410delAT	ENST00000613706.5:p.His470ArgfsTer6
	ENST00000617164.5:c.1760_1761delAT	ENST00000617164.5:p.His587ArgfsTer6
	ENST00000619009.5:c.365-14645_365-14644delAT
	ENST00000620057.4:c.484_483delAT

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	2022-06-13	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2022-07-13	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2024-01-27	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.1817_1818del (p.His606fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.1817_1818del (p.His606fs) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.1817_1818del (p.His606fs) 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: rs587782897 dbSNP
Genome: hg19
Position: chr2:215,609,876-215,609,877
Variant Type: snv
Reference Allele: AT
Alternative Allele: -

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