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NM_000212.3(ITGB3):c.777+2T>G AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 23, 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:
RCV003706727.2

Allele description [Variation Report for NM_000212.3(ITGB3):c.777+2T>G]

NM_000212.3(ITGB3):c.777+2T>G

Genes:
LOC130061044:ATAC-STARR-seq lymphoblastoid active region 12308 [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.777+2T>G
HGVS:
  • NC_000017.11:g.47286424T>G
  • NG_008332.2:g.37583T>G
  • NG_196275.1:g.125T>G
  • NM_000212.3:c.777+2T>GMANE SELECT
  • LRG_481:g.37583T>G
  • NC_000017.10:g.45363790T>G
Molecular consequence:
  • NM_000212.3:c.777+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004485028Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 23, 2022) 		germlineclinical testing

PubMed (5)
[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

Hematologically important mutations: Glanzmann thrombasthenia.

French DL, Coller BS.

Blood Cells Mol Dis. 1997;23(1):39-51. No abstract available.

PubMed [citation]
PMID:
9215749

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

Nurden AT, Pillois X, Fiore M, Alessi MC, Bonduel M, Dreyfus M, Goudemand J, Gruel Y, Benabdallah-Guerida S, Latger-Cannard V, Négrier C, Nugent D, Oiron RD, Rand ML, Sié P, Trossaert M, Alberio L, Martins N, Sirvain-Trukniewicz P, Couloux A, Canault M, Fronthroth JP, et al.

Hum Mutat. 2015 May;36(5):548-61. doi: 10.1002/humu.22776.

PubMed [citation]
PMID:
25728920
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004485028.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individuals with Glanzmann thrombasthenia (PMID: 9215749, 25728920). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the ITGB3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ITGB3 are known to be pathogenic (PMID: 21917754).

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

Last Updated: Sep 29, 2024