chr17:43045758:C>A Detail (hg38) (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	chr17:41,197,775-41,197,775 View the variant detail on this assembly version.
hg38	chr17:43,045,758-43,045,758

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007294.3:c.5512G>T	NP_009225.1:p.Val1838Leu
	NM_007299.3:c.*26G>T
	NM_007300.3:c.5575G>T	NP_009231.2:p.Val1859Leu
	NM_007298.3:c.2200G>T	NP_009229.2:p.Val734Leu
	NM_007297.3:c.5371G>T	NP_009228.2:p.Val1791Leu
Ensemble	ENST00000352993.7:c.2086G>T	ENST00000352993.7:p.Val696Leu
	ENST00000357654.9:c.5512G>T	ENST00000357654.9:p.Val1838Leu
	ENST00000461574.2:c.5509G>T	ENST00000461574.2:p.Val1837Leu
	ENST00000468300.5:c.*26G>T
	ENST00000470026.6:c.5512G>T	ENST00000470026.6:p.Val1838Leu
	ENST00000471181.7:c.5575G>T	ENST00000471181.7:p.Val1859Leu
	ENST00000473961.6:c.5386G>T	ENST00000473961.6:p.Val1796Leu
	ENST00000476777.6:c.5506G>T	ENST00000476777.6:p.Val1836Leu
	ENST00000477152.6:c.5434G>T	ENST00000477152.6:p.Val1812Leu
	ENST00000478531.6:c.2200G>T	ENST00000478531.6:p.Val734Leu
	ENST00000484087.6:c.2074G>T	ENST00000484087.6:p.Val692Leu
	ENST00000489037.2:c.5434G>T	ENST00000489037.2:p.Val1812Leu
	ENST00000491747.6:c.2200G>T	ENST00000491747.6:p.Val734Leu
	ENST00000493795.5:c.5371G>T	ENST00000493795.5:p.Val1791Leu
	ENST00000493919.6:c.2062G>T	ENST00000493919.6:p.Val688Leu
	ENST00000494123.6:c.5512G>T	ENST00000494123.6:p.Val1838Leu
	ENST00000497488.2:c.4624G>T	ENST00000497488.2:p.Val1542Leu
	ENST00000586385.5:c.442G>T	ENST00000586385.5:p.Val148Leu
	ENST00000591534.5:c.985G>T	ENST00000591534.5:p.Val329Leu
	ENST00000591849.5:c.211G>T	ENST00000591849.5:p.Val71Leu
	ENST00000618469.2:c.5512G>T	ENST00000618469.2:p.Val1838Leu
	ENST00000634433.2:c.5389G>T	ENST00000634433.2:p.Val1797Leu
	ENST00000644379.2:c.5578G>T	ENST00000644379.2:p.Val1860Leu
	ENST00000644555.2:c.2062G>T	ENST00000644555.2:p.Val688Leu
	ENST00000713676.1:c.5512G>T	ENST00000713676.1:p.Val1838Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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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
Uncertain significance	2019-03-14	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2022-02-19	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail
not provided		no assertion provided	Breast-ovarian cancer, familial, susceptibility to, 1	not applicable	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.5512G>T (p.Val1838Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5512G>T (p.Val1838Leu) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.5512G>T (p.Val1838Leu) AND Breast-ovarian cancer, familial, susceptibility to, ...	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: rs730881501 dbSNP
Genome: hg38
Position: chr17:43,045,758-43,045,758
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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