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NM_001364905.1(LRBA):c.4466del (p.Pro1489fs) AND Combined immunodeficiency due to LRBA deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 28, 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:
RCV003140544.1

Allele description [Variation Report for NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)]

NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)

Gene:
LRBA:LPS responsive beige-like anchor protein [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4q31.3
Genomic location:
Preferred name:
NM_001364905.1(LRBA):c.4466del (p.Pro1489fs)
HGVS:
  • NC_000004.12:g.150844205del
  • NG_032855.1:g.176295del
  • NM_001199282.2:c.4466del
  • NM_001364905.1:c.4466delMANE SELECT
  • NM_001367550.1:c.4466del
  • NM_006726.4:c.4466del
  • NP_001186211.2:p.Pro1489fs
  • NP_001351834.1:p.Pro1489fs
  • NP_001354479.1:p.Pro1489fs
  • NP_006717.2:p.Pro1489fs
  • LRG_1324t1:c.4466del
  • LRG_1324:g.176295del
  • LRG_1324p1:p.Pro1489fs
  • NC_000004.11:g.151765357del
Protein change:
P1489fs
Molecular consequence:
  • NM_001199282.2:c.4466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001364905.1:c.4466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001367550.1:c.4466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_006726.4:c.4466del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Combined immunodeficiency due to LRBA deficiency
Synonyms:
Common variable immunodeficiency 8, with autoimmunity
Identifiers:
MONDO: MONDO:0013863; MedGen: C3553512; Orphanet: 445018; OMIM: 614700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003807354Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Sep 28, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807354.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PM2 moderated

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Mar 11, 2023