NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2023
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:: RCV000160359.5

Allele description [Variation Report for NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)]

NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

17q23.2

Genomic location:

Preferred name:

NM_032043.3(BRIP1):c.3730_3731del (p.Met1244fs)

HGVS:

NC_000017.11:g.61683315_61683316del
NG_007409.2:g.185244_185245del
NM_032043.3:c.3730_3731delMANE SELECT
NP_114432.2:p.Met1244fs
NP_114432.2:p.Met1244fs
LRG_300t1:c.3730_3731del
LRG_300:g.185244_185245del
LRG_300p1:p.Met1244fs
NC_000017.10:g.59760676_59760677del
NM_032043.2:c.3730_3731del
NM_032043.2:c.3730_3731delAT
p.M1244VfsX5

Protein change:

M1244fs

Links:

dbSNP: rs730881646

NCBI 1000 Genomes Browser:

rs730881646

Molecular consequence:

NM_032043.3:c.3730_3731del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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PP_RS00815 [Pseudomonas putida KT2440]
PP_RS00815 [Pseudomonas putida KT2440]
Gene ID:1043671

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000210865	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000210865

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 4, 2023)

germline

clinical testing

Citation Link

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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, SCV000210865.13

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

Description

Frameshift variant predicted to result in protein truncation as the last 6 amino acids are lost and replaced with 4 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Observed in an individuals with kidney cancer and prostate cancer (Beebe-Dimmer et al., 2018; Huang et al., 2018); This variant is associated with the following publications: (PMID: 29356034, 26689913, 29625052, 22792074)

#	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: May 1, 2024

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