NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val) AND Ovarian neoplasm

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 9, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000410527.3

Allele description [Variation Report for NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)]

NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)

Gene:

BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)

HGVS:

NC_000017.11:g.61685941A>C
NG_007409.2:g.182619T>G
NM_032043.3:c.2800T>GMANE SELECT
NP_114432.2:p.Phe934Val
NP_114432.2:p.Phe934Val
LRG_300t1:c.2800T>G
LRG_300:g.182619T>G
LRG_300p1:p.Phe934Val
NC_000017.10:g.59763302A>C
NM_032043.2:c.2800T>G

Protein change:

F934V

Links:

dbSNP: rs863224801

NCBI 1000 Genomes Browser:

rs863224801

Molecular consequence:

NM_032043.3:c.2800T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ovarian neoplasm
Synonyms:: Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
Identifiers:: MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490108	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Nov 9, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015) Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490108

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Nov 9, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000490108.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine