chr2:214809567:C>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	chr2:215,674,291-215,674,291 View the variant detail on this assembly version.
hg38	chr2:214,809,567-214,809,567

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.3G>A	NP_000456.2:p.?
	NR_104212.1:c.3G>A
	NR_104216.1:c.3G>A
	NM_001282548.1:c.3G>A	NP_001269477.1:p.?
	NM_001282545.1:c.3G>A	NP_001269474.1:p.?
	NM_001282543.1:c.3G>A	NP_001269472.1:p.?
	NR_104215.1:c.3G>A
	NM_001282549.1:c.3G>A	NP_001269478.1:p.?
Ensemble	ENST00000260947.9:c.3G>A	ENST00000260947.9:p.?
	ENST00000421162.2:c.3G>A	ENST00000421162.2:p.?
	ENST00000613374.5:c.3G>A	ENST00000613374.5:p.?
	ENST00000613706.5:c.3G>A	ENST00000613706.5:p.?
	ENST00000617164.5:c.3G>A	ENST00000617164.5:p.?
	ENST00000619009.5:c.3G>A	ENST00000619009.5:p.?
	ENST00000620057.4:c.3G>A	ENST00000620057.4:p.?

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Likely pathogenic	2021-09-13	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-02-10	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Uncertain significance	2023-10-12	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.3G>A (p.Met1Ile) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.3G>A (p.Met1Ile) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.3G>A (p.Met1Ile) AND Malignant tumor of breast	ClinVar	Detail
NM_000465.4(BARD1):c.3G>A (p.Met1Ile) 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: rs587780031 dbSNP
Genome: hg38
Position: chr2:214,809,567-214,809,567
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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