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NM_000212.3(ITGB3):c.777+1G>A AND Glanzmann thrombasthenia 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 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:
RCV003152747.1

Allele description [Variation Report for NM_000212.3(ITGB3):c.777+1G>A]

NM_000212.3(ITGB3):c.777+1G>A

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+1G>A
Other names:
NM_000212.3:c.777+1G>A
HGVS:
  • NC_000017.11:g.47286423G>A
  • NG_008332.2:g.37582G>A
  • NM_000212.3:c.777+1G>AMANE SELECT
  • LRG_481t1:c.777+1G>A
  • LRG_481:g.37582G>A
  • NC_000017.10:g.45363789G>A
  • NC_000017.10:g.45363789G>A
  • NM_000212.2:c.777+1G>A
Links:
dbSNP: rs745766760
NCBI 1000 Genomes Browser:
rs745766760
Molecular consequence:
  • NM_000212.3:c.777+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Glanzmann thrombasthenia 2
Synonyms:
BLEEDING DISORDER, PLATELET-TYPE, 23
Identifiers:
MONDO: MONDO:0031009; MedGen: C5543273; OMIM: 619267

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0038417483billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 23, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot 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 3billion, SCV003841748.1

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

Description

The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.009%). This variant was predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported multiple times as an established pathogenic variant (ClinVar ID: VCV000850886). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Sep 29, 2024