Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_032043.2(BRIP1):c.2569A>G (p.Ile857Val)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 27, 2018
Accession:
VCV000649031.1
Variation ID:
649031
Description:
single nucleotide variant
Help

NM_032043.2(BRIP1):c.2569A>G (p.Ile857Val)

Allele ID
646306
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q23.2
Genomic location
17: 61693436 (GRCh38) GRCh38 UCSC
17: 59770797 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_300:g.175124A>G
NC_000017.10:g.59770797T>C
NC_000017.11:g.61693436T>C
... more HGVS
Protein change
I857V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 27, 2018 RCV000803884.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRIP1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2250 2286

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 27, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary Breast Carcinoma

Fanconi anemia, complementation group J
Allele origin: germline
Invitae
Accession: SCV000943771.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 857 of the BRIP1 protein (p.Ile857Val). The isoleucine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019