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NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 10, 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:
RCV003558796.2

Allele description [Variation Report for NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)]

NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)

Gene:
ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)
HGVS:
  • NC_000017.11:g.47286310T>C
  • NG_008332.2:g.37469T>C
  • NM_000212.3:c.665T>CMANE SELECT
  • NP_000203.2:p.Leu222Pro
  • LRG_481:g.37469T>C
  • NC_000017.10:g.45363676T>C
  • NC_000017.10:g.45363676T>C
Protein change:
L222P
Links:
dbSNP: rs79208797
NCBI 1000 Genomes Browser:
rs79208797
Molecular consequence:
  • NM_000212.3:c.665T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004298255Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 10, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Jallu V, Dusseaux M, Panzer S, Torchet MF, Hezard N, Goudemand J, de Brevern AG, Kaplan C.

Hum Mutat. 2010 Mar;31(3):237-46. doi: 10.1002/humu.21179.

PubMed [citation]
PMID:
20020534

A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia.

Nurden AT, Fernandes H, Fiore M, Nurden P, Vinciguerra C, Martins N, Sirvain-Trukniewicz P, Couloux A, Heilig R, Pillois X.

Platelets. 2010;21(6):498-500. doi: 10.3109/09537101003771528. No abstract available.

PubMed [citation]
PMID:
20438394
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004298255.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 222 of the ITGB3 protein (p.Leu222Pro). This variant is present in population databases (rs79208797, gnomAD 0.002%). This missense change has been observed in individual(s) with autosomal recessive Glanzmann thrombasthenia (PMID: 20020534, 20438394, 25539746). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.Leu196Pro. ClinVar contains an entry for this variant (Variation ID: 996163). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ITGB3 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024