NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del) AND Glanzmann thrombasthenia 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 22, 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:: RCV002251161.1

Allele description [Variation Report for NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del)]

NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del)

Gene:

ITGA2B:integrin subunit alpha 2b [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del)

HGVS:

NC_000017.11:g.44380099_44380140del
NG_008331.1:g.14371_14412del
NM_000419.5:c.1619_1660delMANE SELECT
NP_000410.2:p.Gln540_Leu553del
LRG_479:g.14371_14412del
NC_000017.10:g.42457467_42457508del

Links:

dbSNP: rs2143459210

NCBI 1000 Genomes Browser:

rs2143459210

Molecular consequence:

NM_000419.5:c.1619_1660del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Name:: Glanzmann thrombasthenia 1 (GT1)
Synonyms:: GP IIb-IIIa COMPLEX DEFICIENCY; GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY; PLATELET FIBRINOGEN RECEPTOR DEFICIENCY
Identifiers:: MONDO: MONDO:0031332; MedGen: CN300358; OMIM: 273800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002521626	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 22, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002521626

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 22, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical 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, SCV002521626.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. The variant is shared with affected family member (3billion dataset). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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