NM_000212.3(ITGB3):c.748G>C (p.Asp250His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 19, 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:: RCV003723288.2

Allele description [Variation Report for NM_000212.3(ITGB3):c.748G>C (p.Asp250His)]

NM_000212.3(ITGB3):c.748G>C (p.Asp250His)

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.748G>C (p.Asp250His)

HGVS:

NC_000017.11:g.47286393G>C
NG_008332.2:g.37552G>C
NG_196274.1:g.234G>C
NG_196275.1:g.94G>C
NM_000212.3:c.748G>CMANE SELECT
NP_000203.2:p.Asp250His
NP_000203.2:p.Asp250His
LRG_481t1:c.748G>C
LRG_481:g.37552G>C
LRG_481p1:p.Asp250His
NC_000017.10:g.45363759G>C
NM_000212.2:c.748G>C

Protein change:

D250H

Molecular consequence:

NM_000212.3:c.748G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Chromosome neighbors for GEO Profiles (Select 125863395) (20)
GEO Profiles
ClinVar for Gene (Select 283385) (52)
ClinVar
dbVar for Gene (Select 283385) (309)
dbVar
PREDICTED: Homo sapiens family with sequence similarity 76 member B (FAM76B), tr...
PREDICTED: Homo sapiens family with sequence similarity 76 member B (FAM76B), transcript variant X5, mRNA
gi|2217281263|ref|XM_011542612.2|

Nucleotide
MORN repeat-containing protein 3 [Homo sapiens]
MORN repeat-containing protein 3 [Homo sapiens]
gi|1393428354|ref|NP_001350614.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004501331	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 19, 2023)	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

SCV004501331

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 19, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004501331.1

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

Description

This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 250 of the ITGB3 protein (p.Asp250His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ITGB3-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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