chr2:214752511: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	chr2:215,617,235-215,617,235 View the variant detail on this assembly version.
hg38	chr2:214,752,511-214,752,511

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1613G>A	NP_000456.2:p.Ser538Asn
	NR_104212.1:c.1613G>A
	NR_104216.1:c.1613G>A
	NM_001282548.1:c.203G>A	NP_001269477.1:p.Ser68Asn
	NM_001282545.1:c.1205G>A	NP_001269474.1:p.Ser402Asn
	NM_001282543.1:c.1556G>A	NP_001269472.1:p.Ser519Asn
	NR_104215.1:c.1556G>A
	NM_001282549.1:c.365-22003G>A
Ensemble	ENST00000260947.9:c.1613G>A	ENST00000260947.9:p.Ser538Asn
	ENST00000421162.2:c.260G>A	ENST00000421162.2:p.Ser87Asn
	ENST00000613374.5:c.203G>A	ENST00000613374.5:p.Ser68Asn
	ENST00000613706.5:c.1205G>A	ENST00000613706.5:p.Ser402Asn
	ENST00000617164.5:c.1556G>A	ENST00000617164.5:p.Ser519Asn
	ENST00000619009.5:c.365-22003G>A
	ENST00000620057.4:c.*279G>A

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	Conflicting classifications of pathogenicity
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
Conflicting interpretations of pathogenicity	2021-05-03	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2024-01-07	criteria provided, conflicting interpretations	Familial cancer of breast	germline unknown	Detail
Uncertain significance	2022-11-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2022-11-14	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) AND not provided	ClinVar	Detail
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) AND not specified	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: rs370771157 dbSNP
Genome: hg38
Position: chr2:214,752,511-214,752,511
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121292
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): 1.6489133660917455E-5

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