chr2:214728759:G>A 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	chr2:215,593,483-215,593,483 View the variant detail on this assembly version.
hg38	chr2:214,728,759-214,728,759

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.2251C>T	NP_000456.2:p.Arg751Trp
	NR_104212.1:c.2251C>T
	NR_104216.1:c.2251C>T
	NM_001282548.1:c.841C>T	NP_001269477.1:p.Arg281Trp
	NM_001282545.1:c.1843C>T	NP_001269474.1:p.Arg615Trp
	NM_001282543.1:c.2194C>T	NP_001269472.1:p.Arg732Trp
	NR_104215.1:c.2194C>T
	NM_001282549.1:c.712C>T	NP_001269478.1:p.Arg238Trp
Ensemble	ENST00000260947.9:c.2251C>T	ENST00000260947.9:p.Arg751Trp
	ENST00000421162.2:c.898C>T	ENST00000421162.2:p.Arg300Trp
	ENST00000613374.5:c.841C>T	ENST00000613374.5:p.Arg281Trp
	ENST00000613706.5:c.1843C>T	ENST00000613706.5:p.Arg615Trp
	ENST00000617164.5:c.2194C>T	ENST00000617164.5:p.Arg732Trp
	ENST00000619009.5:c.712C>T	ENST00000619009.5:p.Arg238Trp
	ENST00000620057.4:c.*917C>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

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	2017-02-24	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2023-07-19	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-12-26	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Uncertain significance	2022-04-19	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp) AND Hereditary breast ovarian cancer syndrome	ClinVar	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: rs139785364 dbSNP
Genome: hg38
Position: chr2:214,728,759-214,728,759
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Allele Frequency (ExAC): 0.0
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
Chromosome Counts in All Race (ExAC): 121296
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.648858989579211E-5

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