chr17:41201157:G>T Detail (hg19) (BRCA1)

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

Genome

Assembly	Position
hg19	chr17:41,201,157-41,201,157
hg38	chr17:43,049,140-43,049,140 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5387C>A	NP_009225.1:p.Ser1796Ter
	NM_007300.3:c.5450C>A	NP_009231.2:p.Ser1817Ter
	NM_007299.3:c.2021-1437C>A
	NM_007297.3:c.5246C>A	NP_009228.2:p.Ser1749Ter
	NM_007298.3:c.2075C>A	NP_009229.2:p.Ser692Ter
Ensemble	ENST00000357654.9:c.5387C>A	ENST00000357654.9:p.Ser1796Ter
	ENST00000461574.2:c.5384C>A	ENST00000461574.2:p.Ser1795Ter
	ENST00000591534.5:c.860C>A	ENST00000591534.5:p.Ser287Ter
	ENST00000471181.7:c.5450C>A	ENST00000471181.7:p.Ser1817Ter
	ENST00000497488.2:c.4499C>A	ENST00000497488.2:p.Ser1500Ter
	ENST00000493919.6:c.1937C>A	ENST00000493919.6:p.Ser646Ter
	ENST00000352993.7:c.1961C>A	ENST00000352993.7:p.Ser654Ter
	ENST00000477152.6:c.5309C>A	ENST00000477152.6:p.Ser1770Ter
	ENST00000473961.6:c.5261C>A	ENST00000473961.6:p.Ser1754Ter
	ENST00000644555.2:c.1937C>A	ENST00000644555.2:p.Ser646Ter
	ENST00000468300.5:c.2021-1437C>A
	ENST00000493795.5:c.5246C>A	ENST00000493795.5:p.Ser1749Ter
	ENST00000484087.6:c.1949C>A	ENST00000484087.6:p.Ser650Ter
	ENST00000494123.6:c.5387C>A	ENST00000494123.6:p.Ser1796Ter
	ENST00000478531.6:c.2075C>A	ENST00000478531.6:p.Ser692Ter
	ENST00000476777.6:c.5381C>A	ENST00000476777.6:p.Ser1794Ter
	ENST00000489037.2:c.5309C>A	ENST00000489037.2:p.Ser1770Ter
	ENST00000591849.5:c.86C>A	ENST00000591849.5:p.Ser29Ter
	ENST00000634433.2:c.5264C>A	ENST00000634433.2:p.Ser1755Ter
	ENST00000586385.5:c.317C>A	ENST00000586385.5:p.Ser106Ter
	ENST00000618469.2:c.5387C>A	ENST00000618469.2:p.Ser1796Ter
	ENST00000470026.6:c.5387C>A	ENST00000470026.6:p.Ser1796Ter
	ENST00000491747.6:c.2075C>A	ENST00000491747.6:p.Ser692Ter
	ENST00000713676.1:c.5387C>A	ENST00000713676.1:p.Ser1796Ter
	ENST00000644379.2:c.5453C>A	ENST00000644379.2:p.Ser1818Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline not applicable	Detail
Pathogenic	2023-07-17	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2021-08-26	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-12-30	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.360	Breast-ovarian cancer, familial, susceptibility to, 1	NA	CLINVAR	Detail
0.126	Neoplastic Syndromes, Hereditary	NA	CLINVAR	Detail
0.420	Hereditary Breast and Ovarian Cancer Syndrome	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	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: rs80357055 dbSNP
Genome: hg19
Position: chr17:41,201,157-41,201,157
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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