chr17:41234579:A>G 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	chr17:41,234,579-41,234,579
hg38	chr17:43,082,562-43,082,562 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007298.3:c.890T>C	NP_009229.2:p.Met297Thr
	NM_007297.3:c.4058T>C	NP_009228.2:p.Met1353Thr
	NM_007299.3:c.890T>C	NP_009230.2:p.Met297Thr
	NM_007300.3:c.4199T>C	NP_009231.2:p.Met1400Thr
	NM_007294.3:c.4199T>C	NP_009225.1:p.Met1400Thr
Ensemble	ENST00000713676.1:c.4199T>C	ENST00000713676.1:p.Met1400Thr
	ENST00000644379.2:c.4199T>C	ENST00000644379.2:p.Met1400Thr
	ENST00000586385.5:c.5-18611T>C
	ENST00000618469.2:c.4199T>C	ENST00000618469.2:p.Met1400Thr
	ENST00000470026.6:c.4199T>C	ENST00000470026.6:p.Met1400Thr
	ENST00000491747.6:c.890T>C	ENST00000491747.6:p.Met297Thr
	ENST00000634433.2:c.4076T>C	ENST00000634433.2:p.Met1359Thr
	ENST00000591849.5:c.-98-32372T>C
	ENST00000489037.2:c.4121T>C	ENST00000489037.2:p.Met1374Thr
	ENST00000700182.1:c.809T>C	ENST00000700182.1:p.Met270Thr
	ENST00000476777.6:c.4193T>C	ENST00000476777.6:p.Met1398Thr
	ENST00000484087.6:c.764T>C	ENST00000484087.6:p.Met255Thr
	ENST00000494123.6:c.4199T>C	ENST00000494123.6:p.Met1400Thr
	ENST00000478531.6:c.887T>C	ENST00000478531.6:p.Met296Thr
	ENST00000493795.5:c.4058T>C	ENST00000493795.5:p.Met1353Thr
	ENST00000473961.6:c.4073T>C	ENST00000473961.6:p.Met1358Thr
	ENST00000644555.2:c.749T>C	ENST00000644555.2:p.Met250Thr
	ENST00000468300.5:c.890T>C	ENST00000468300.5:p.Met297Thr
	ENST00000477152.6:c.4121T>C	ENST00000477152.6:p.Met1374Thr
	ENST00000352993.7:c.773T>C	ENST00000352993.7:p.Met258Thr
	ENST00000493919.6:c.749T>C	ENST00000493919.6:p.Met250Thr
	ENST00000591534.5:c.-43-8041T>C
	ENST00000471181.7:c.4199T>C	ENST00000471181.7:p.Met1400Thr
	ENST00000497488.2:c.3311T>C	ENST00000497488.2:p.Met1104Thr
	ENST00000357654.9:c.4199T>C	ENST00000357654.9:p.Met1400Thr
	ENST00000461574.2:c.4199T>C	ENST00000461574.2:p.Met1400Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2003-12-23	no assertion criteria provided	Breast-ovarian cancer, familial, susceptibility to, 1	germline	Detail
Uncertain significance	2021-04-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2019-08-08	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail
Uncertain significance	2023-08-03	criteria provided, single submitter	hereditary breast ovarian cancer syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.080	breast carcinoma	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.360	Malignant neoplasm of breast	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.010	Malignant neoplasm of breast	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail
0.003	breast carcinoma	In this case-control study of 1,004 breast cancer cases and 1,008 controls, we t...	BeFree	19205873	Detail

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4199T>C (p.Met1400Thr) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	DisGeNET	Detail
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis...	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: rs80357473 dbSNP
Genome: hg19
Position: chr17:41,234,579-41,234,579
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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