chr2:214752454:C>G Detail (hg38) (BARD1)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:215,617,178-215,617,178 View the variant detail on this assembly version.
hg38	chr2:214,752,454-214,752,454

HGVS

BARD1

Type	Transcript	Protein
RefSeq	NM_000465.3:c.1670G>C	NP_000456.2:p.Cys557Ser
	NR_104212.1:c.1670G>C
	NR_104216.1:c.1670G>C
	NM_001282548.1:c.260G>C	NP_001269477.1:p.Cys87Ser
	NM_001282545.1:c.1262G>C	NP_001269474.1:p.Cys421Ser
	NM_001282543.1:c.1613G>C	NP_001269472.1:p.Cys538Ser
	NR_104215.1:c.1613G>C
	NM_001282549.1:c.365-21946G>C
Ensemble	ENST00000260947.9:c.1670G>C	ENST00000260947.9:p.Cys557Ser
	ENST00000421162.2:c.317G>C	ENST00000421162.2:p.Cys106Ser
	ENST00000613374.5:c.260G>C	ENST00000613374.5:p.Cys87Ser
	ENST00000613706.5:c.1262G>C	ENST00000613706.5:p.Cys421Ser
	ENST00000617164.5:c.1613G>C	ENST00000617164.5:p.Cys538Ser
	ENST00000619009.5:c.365-21946G>C
	ENST00000620057.4:c.*336G>C

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	Benign Likely benign
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	tgv10439093	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2005-08-01	no assertion criteria provided	Breast cancer, susceptibility to	germline	Detail
Benign	2021-06-02	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline unknown	Detail
Benign Likely benign	2024-02-01	criteria provided, multiple submitters, no conflicts	Familial cancer of breast	germline unknown	Detail
Likely benign		no assertion criteria provided		unknown	Detail
Benign	2022-04-19	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
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	These results provide further evidence that BARD1 Cys557Ser confers a slightly i...	BeFree	16825437	Detail
0.008	breast carcinoma	Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a me...	BeFree	21809034	Detail
0.008	breast carcinoma	The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-cont...	BeFree	18481171	Detail
0.114	Malignant neoplasm of breast	The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-cont...	BeFree	18481171	Detail
0.008	breast carcinoma	These results provide further evidence that BARD1 Cys557Ser confers a slightly i...	BeFree	16825437	Detail
0.280	Malignant neoplasm of ovary	The frequency of the BARD1 Cys557Ser variant seemed to increase among patients f...	BeFree	16825437	Detail
0.007	Malignant neoplasm of ovary	The frequency of the BARD1 Cys557Ser variant seemed to increase among patients f...	BeFree	16825437	Detail
0.005	ovarian carcinoma	The frequency of the BARD1 Cys557Ser variant seemed to increase among patients f...	BeFree	16825437	Detail
0.008	breast carcinoma	The BARD1 Cys557Ser variant and breast cancer risk in Iceland.	BeFree	16768547	Detail
0.114	Malignant neoplasm of breast	Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a me...	BeFree	21809034	Detail
0.121	Breast Cancer, Familial	The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-Americ...	BeFree	22544576	Detail
0.114	Malignant neoplasm of breast	The BARD1 Cys557Ser variant and breast cancer risk in Iceland.	BeFree	16768547	Detail
0.080	ovarian carcinoma	The frequency of the BARD1 Cys557Ser variant seemed to increase among patients f...	BeFree	16825437	Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) AND Breast cancer, susceptibility to	ClinVar	Detail
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) AND not specified	ClinVar	Detail
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) AND Familial cancer of breast	ClinVar	Detail
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) AND Malignant tumor of breast	ClinVar	Detail
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) AND Hereditary breast ovarian cancer syndrome	ClinVar	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
These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of bre...	DisGeNET	Detail
Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,87...	DisGeNET	Detail
The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analy...	DisGeNET	Detail
The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analy...	DisGeNET	Detail
These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of bre...	DisGeNET	Detail
The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with br...	DisGeNET	Detail
The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with br...	DisGeNET	Detail
The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with br...	DisGeNET	Detail
The BARD1 Cys557Ser variant and breast cancer risk in Iceland.	DisGeNET	Detail
Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,87...	DisGeNET	Detail
The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population.	DisGeNET	Detail
The BARD1 Cys557Ser variant and breast cancer risk in Iceland.	DisGeNET	Detail
The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with br...	DisGeNET	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: rs28997576 dbSNP
Genome: hg38
Position: chr2:214,752,454-214,752,454
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.155802126675913E-4
Chromosome Counts in All Race (ExAC): 121234
Allele Counts in All Race (ExAC): 1893
Heterozygous Counts in All Race (ExAC): 1831
Homozygous Counts in All Race (ExAC): 31
Allele Frequency in All Race (ExAC): 0.015614431595097084

Genome browser