NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 5, 2022
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:: RCV002466467.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)]

NM_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)

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.3431A>G (p.Glu1144Gly)

HGVS:

NC_000017.11:g.61683615T>C
NG_007409.2:g.184945A>G
NM_032043.3:c.3431A>GMANE SELECT
NP_114432.2:p.Glu1144Gly
NP_114432.2:p.Glu1144Gly
LRG_300t1:c.3431A>G
LRG_300:g.184945A>G
LRG_300p1:p.Glu1144Gly
NC_000017.10:g.59760976T>C
NM_032043.2:c.3431A>G

Protein change:

E1144G

Links:

dbSNP: rs774605759

NCBI 1000 Genomes Browser:

rs774605759

Molecular consequence:

NM_032043.3:c.3431A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Gm23292 AND (alive[prop]) (2)
Gene
PSEEN_RS21060 [Pseudomonas entomophila L48]
PSEEN_RS21060 [Pseudomonas entomophila L48]
Gene ID:32807536

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002762306	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 5, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002762306

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 5, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002762306.1

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

Description

Observed in individuals with a personal and/or family history of breast, ovarian, and/or pancreatic cancer (Cremin et al., 2020; Kadri et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32255556, 20159562, 21127055, 33552952)

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

Last Updated: Oct 26, 2024

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