chr2:214767531:CA>AG 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	chr2:215,632,255-215,632,256 View the variant detail on this assembly version.
hg38	chr2:214,767,531-214,767,532

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1518_1519delinsCT	NP_000456.2:p.Val507Leu
	NR_104212.1:c.1518_1519delinsCT
	NR_104216.1:c.1518_1519delinsCT
	NM_001282548.1:c.159-14977_159-14976delinsCT
	NM_001282545.1:c.1110_1111delinsCT	NP_001269474.1:p.Val371Leu
	NM_001282543.1:c.1461_1462delinsCT	NP_001269472.1:p.Val488Leu
	NR_104215.1:c.1461_1462delinsCT
	NM_001282549.1:c.364+24765_364+24766delinsCT
Ensemble	ENST00000260947.9:c.1518_1519delinsCT	ENST00000260947.9:p.Val507Leu
	ENST00000421162.2:c.216-14977_216-14976delinsCT
	ENST00000613374.5:c.159-14977_159-14976delinsCT
	ENST00000613706.5:c.1110_1111delinsCT	ENST00000613706.5:p.Val371Leu
	ENST00000617164.5:c.1461_1462delinsCT	ENST00000617164.5:p.Val488Leu
	ENST00000619009.5:c.364+24765_364+24766delinsCT
	ENST00000620057.4:c.185_184delinsCT

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
Uncertain significance	2015-06-22	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2017-06-16	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-08-29	criteria provided, single submitter	Familial cancer of breast	germline	Detail
Uncertain significance	2023-12-11	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.008	breast carcinoma	Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of ...	BeFree	14550946	Detail
0.008	breast carcinoma	BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.	BeFree	16333312	Detail
0.121	Breast Cancer, Familial	These results suggest that the contribution of the BARD1 germline variants to br...	BeFree	16333312	Detail
0.114	Malignant neoplasm of breast	BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.	BeFree	16333312	Detail
0.114	Malignant neoplasm of breast	Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of ...	BeFree	14550946	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) AND not specified	ClinVar	Detail
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women...	DisGeNET	Detail
BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.	DisGeNET	Detail
These results suggest that the contribution of the BARD1 germline variants to breast cancer predispo...	DisGeNET	Detail
BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.	DisGeNET	Detail
Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women...	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: rs386654966 dbSNP
Genome: hg38
Position: chr2:214,767,531-214,767,532
Variant Type: snv
Reference Allele: CA
Alternative Allele: AG

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