chr17:41226411:G>A 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	chr17:41,226,411-41,226,411
hg38	chr17:43,074,394-43,074,394 View the variant detail on this assembly version.

HGVS

BRCA1

Type	Transcript	Protein
RefSeq	NM_007299.3:c.1300C>T	NP_009230.2:p.Gln434Ter
	NM_007297.3:c.4471C>T	NP_009228.2:p.Gln1491Ter
	NM_007300.3:c.4675C>T	NP_009231.2:p.Gln1559Ter
	NM_007294.3:c.4612C>T	NP_009225.1:p.Gln1538Ter
	NM_007298.3:c.1300C>T	NP_009229.2:p.Gln434Ter
Ensemble	ENST00000468300.5:c.1300C>T	ENST00000468300.5:p.Gln434Ter
	ENST00000493795.5:c.4471C>T	ENST00000493795.5:p.Gln1491Ter
	ENST00000591849.5:c.-98-24204C>T
	ENST00000471181.7:c.4675C>T	ENST00000471181.7:p.Gln1559Ter
	ENST00000478531.6:c.1300C>T	ENST00000478531.6:p.Gln434Ter
	ENST00000591534.5:c.85C>T	ENST00000591534.5:p.Gln29Ter
	ENST00000586385.5:c.5-10443C>T
	ENST00000484087.6:c.1174C>T	ENST00000484087.6:p.Gln392Ter
	ENST00000357654.9:c.4612C>T	ENST00000357654.9:p.Gln1538Ter
	ENST00000461574.2:c.4609C>T	ENST00000461574.2:p.Gln1537Ter
	ENST00000491747.6:c.1300C>T	ENST00000491747.6:p.Gln434Ter
	ENST00000352993.7:c.1186C>T	ENST00000352993.7:p.Gln396Ter
	ENST00000493919.6:c.1162C>T	ENST00000493919.6:p.Gln388Ter
	ENST00000470026.6:c.4612C>T	ENST00000470026.6:p.Gln1538Ter
	ENST00000473961.6:c.4486C>T	ENST00000473961.6:p.Gln1496Ter
	ENST00000476777.6:c.4606C>T	ENST00000476777.6:p.Gln1536Ter
	ENST00000477152.6:c.4534C>T	ENST00000477152.6:p.Gln1512Ter
	ENST00000489037.2:c.4534C>T	ENST00000489037.2:p.Gln1512Ter
	ENST00000494123.6:c.4612C>T	ENST00000494123.6:p.Gln1538Ter
	ENST00000497488.2:c.3724C>T	ENST00000497488.2:p.Gln1242Ter
	ENST00000618469.2:c.4612C>T	ENST00000618469.2:p.Gln1538Ter
	ENST00000634433.2:c.4489C>T	ENST00000634433.2:p.Gln1497Ter
	ENST00000644379.2:c.4678C>T	ENST00000644379.2:p.Gln1560Ter
	ENST00000644555.2:c.1162C>T	ENST00000644555.2:p.Gln388Ter
	ENST00000700182.1:c.1219C>T	ENST00000700182.1:p.Gln407Ter
	ENST00000713676.1:c.4612C>T	ENST00000713676.1:p.Gln1538Ter

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	5
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	COSM78884	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation
Pathogenic	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Pathogenic	2021/03/19	breast	germline	MGS000048 (TMGS000112)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic	2021/03/19	prostate	germline	MGS000049 (TMGS000113)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic	2020/04/20	sigmoid colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-11-25	criteria provided, multiple submitters, no conflicts	hereditary breast ovarian cancer syndrome	germline	Detail
Pathogenic	2016-09-08	reviewed by expert panel	Breast-ovarian cancer, familial, susceptibility to, 1	germline unknown	Detail
Pathogenic	2023-09-28	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2021-12-21	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND Hereditary breast ovarian cancer syndrome	ClinVar	Detail
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND Breast-ovarian cancer, familial, susceptibility to, ...	ClinVar	Detail
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND not provided	ClinVar	Detail
NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	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: rs80356992 dbSNP
Genome: hg19
Position: chr17:41,226,411-41,226,411
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser

chr17:41226411:G>A Detail (hg19) (BRCA1)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Clinical information of patient(s) with this variant provided by the submitter(s)

Clinical information of patient(s) with this variant provided by the submitter(s)

Clinical information of patient(s) with this variant provided by the submitter(s)

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript