chr17:59760994:T>C Detail (hg19) (BRIP1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr17:59,760,994-59,760,994
hg38	chr17:61,683,633-61,683,633 View the variant detail on this assembly version.

HGVS

BRIP1

Type	Transcript	Protein
RefSeq	NM_032043.2:c.3413A>G	NP_114432.2:p.Asp1138Gly
Ensemble	ENST00000682755.1:c.3191A>G	ENST00000682755.1:p.Asp1064Gly
	ENST00000682989.1:c.*504A>G
	ENST00000683039.1:c.3413A>G	ENST00000683039.1:p.Asp1138Gly
	ENST00000682453.1:c.3413A>G	ENST00000682453.1:p.Asp1138Gly
	ENST00000259008.7:c.3413A>G	ENST00000259008.7:p.Asp1138Gly

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

BRIP1

Type	Database	ID	Link
Gene	MIM	605882	OMIM
	HGNC	20473	HGNC
	Ensembl	ENSG00000136492	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	2015-08-10	criteria provided, single submitter	Hereditary cancer	unknown	Detail
Uncertain significance	2018-09-08	criteria provided, single submitter	Fanconi anemia complementation group J,Familial cancer of breast	germline	Detail
Uncertain significance	2018-09-08	criteria provided, single submitter	Fanconi anemia complementation group J,Familial cancer of breast	germline	Detail
Uncertain significance	2016-01-01	criteria provided, single submitter	Fanconi anemia complementation group J	unknown	Detail
Uncertain significance	2024-03-27	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) AND Hereditary cancer	ClinVar	Detail
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) AND multiple conditions	ClinVar	Detail
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) AND multiple conditions	ClinVar	Detail
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) AND Fanconi anemia complementation group J	ClinVar	Detail
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) AND Hereditary cancer-predisposing syndrome	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: rs1057518847 dbSNP
Genome: hg19
Position: chr17:59,760,994-59,760,994
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser