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NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 2024
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:
RCV004030899.1

Allele description [Variation Report for NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe)]

NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe)

Gene:
LRBA:LPS responsive beige-like anchor protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.3
Genomic location:
Preferred name:
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe)
Other names:
p.Cys950Phe
HGVS:
  • NC_000004.12:g.150852861C>A
  • NG_032855.1:g.167637G>T
  • NM_001199282.2:c.2849G>T
  • NM_001364905.1:c.2849G>TMANE SELECT
  • NM_001367550.1:c.2849G>T
  • NM_006726.4:c.2849G>T
  • NP_001186211.2:p.Cys950Phe
  • NP_001351834.1:p.Cys950Phe
  • NP_001354479.1:p.Cys950Phe
  • NP_006717.2:p.Cys950Phe
  • LRG_1324t1:c.2849G>T
  • LRG_1324:g.167637G>T
  • LRG_1324p1:p.Cys950Phe
  • NC_000004.11:g.151774013C>A
Protein change:
C950F
Links:
dbSNP: rs751947187
NCBI 1000 Genomes Browser:
rs751947187
Molecular consequence:
  • NM_001199282.2:c.2849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001364905.1:c.2849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001367550.1:c.2849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006726.4:c.2849G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004898411Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 17, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004898411.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2849G>T (p.C950F) alteration is located in exon 23 (coding exon 22) of the LRBA gene. This alteration results from a G to T substitution at nucleotide position 2849, causing the cysteine (C) at amino acid position 950 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024