chr17:41247892:T>C Detail (hg19) (BRCA1)

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

Information

Genome

Assembly	Position
hg19	chr17:41,247,892-41,247,892
hg38	chr17:43,095,875-43,095,875 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.641A>G	NP_009229.2:p.Asp214Gly
	NM_007297.3:c.500A>G	NP_009228.2:p.Asp167Gly
	NM_007299.3:c.641A>G	NP_009230.2:p.Asp214Gly
	NM_007294.3:c.641A>G	NP_009225.1:p.Asp214Gly
	NM_007300.3:c.641A>G	NP_009231.2:p.Asp214Gly
Ensemble	ENST00000491747.6:c.641A>G	ENST00000491747.6:p.Asp214Gly
	ENST00000470026.6:c.641A>G	ENST00000470026.6:p.Asp214Gly
	ENST00000618469.2:c.641A>G	ENST00000618469.2:p.Asp214Gly
	ENST00000586385.5:c.4+29307A>G
	ENST00000644379.2:c.641A>G	ENST00000644379.2:p.Asp214Gly
	ENST00000713676.1:c.641A>G	ENST00000713676.1:p.Asp214Gly
	ENST00000591849.5:c.-99+29396A>G
	ENST00000634433.2:c.548-1015A>G
	ENST00000489037.2:c.563A>G	ENST00000489037.2:p.Asp188Gly
	ENST00000476777.6:c.638A>G	ENST00000476777.6:p.Asp213Gly
	ENST00000700182.1:c.560A>G	ENST00000700182.1:p.Asp187Gly
	ENST00000493795.5:c.500A>G	ENST00000493795.5:p.Asp167Gly
	ENST00000478531.6:c.638A>G	ENST00000478531.6:p.Asp213Gly
	ENST00000484087.6:c.548-1015A>G
	ENST00000494123.6:c.641A>G	ENST00000494123.6:p.Asp214Gly
	ENST00000477152.6:c.563A>G	ENST00000477152.6:p.Asp188Gly
	ENST00000644555.2:c.500A>G	ENST00000644555.2:p.Asp167Gly
	ENST00000468300.5:c.641A>G	ENST00000468300.5:p.Asp214Gly
	ENST00000473961.6:c.545-1015A>G
	ENST00000493919.6:c.500A>G	ENST00000493919.6:p.Asp167Gly
	ENST00000352993.7:c.641A>G	ENST00000352993.7:p.Asp214Gly
	ENST00000461574.2:c.641A>G	ENST00000461574.2:p.Asp214Gly
	ENST00000357654.9:c.641A>G	ENST00000357654.9:p.Asp214Gly
	ENST00000497488.2:c.-218-1015A>G
	ENST00000471181.7:c.641A>G	ENST00000471181.7:p.Asp214Gly
	ENST00000591534.5:c.-43-21354A>G

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
Review star
Show details

Links

BRCA1

Type	Database	ID	Link
Gene	MIM	113705	OMIM
	HGNC	1100	HGNC
	Ensembl	ENSG00000012048	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
Benign	2017-06-29	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Uncertain significance	2024-01-21	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
Conflicting interpretations of pathogenicity	2022-03-09	criteria provided, conflicting interpretations	Hereditary cancer-predisposing syndrome	germline	Detail
Benign	2016-04-15	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Conflicting interpretations of pathogenicity	2023-05-11	criteria provided, conflicting interpretations	not provided	germline unknown	Detail
Uncertain significance	2020-10-14	criteria provided, single submitter	Breast and/or ovarian cancer	germline	Detail
Likely benign	2023-11-22	criteria provided, single submitter	not specified	germline	Detail
Benign	2020-08-11	criteria provided, single submitter	BRCA1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.3(BRCA1):c.[594-2A>C;641A>G] AND Breast-ovarian cancer, familial, susceptibility to, 1	ClinVar	Detail
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND Breast and/or ovarian cancer	ClinVar	Detail
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND not specified	ClinVar	Detail
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) AND BRCA1-related disorder	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: rs55680408 dbSNP
Genome: hg19
Position: chr17:41,247,892-41,247,892
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8434
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): 115540
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): 1.7310022503029254E-5

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