NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) AND Platelet-type bleeding disorder 16

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002243642.3

Allele description [Variation Report for NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)]

NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln)

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.719G>A (p.Arg240Gln)

Other names:

R214Q

HGVS:

NC_000017.11:g.47286364G>A
NG_008332.2:g.37523G>A
NM_000212.3:c.719G>AMANE SELECT
NP_000203.2:p.Arg240Gln
LRG_481t1:c.719G>A
LRG_481:g.37523G>A
NC_000017.10:g.45363730G>A
NM_000212.2(ITGB3):c.719G>A
NM_000212.2:c.719G>A
P05106:p.Arg240Gln

Protein change:

R240Q; ARG214GLN

Links:

UniProtKB: P05106#VAR_003999; OMIM: 173470.0001; dbSNP: rs121918444

NCBI 1000 Genomes Browser:

rs121918444

Molecular consequence:

NM_000212.3:c.719G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Platelet-type bleeding disorder 16 (BDPLT16)
Synonyms:: Bleeding disorder, platelet-type, 16, autosomal dominant
Identifiers:: MONDO: MONDO:0008552; MedGen: C5442010; Orphanet: 140957; OMIM: 187800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002515563	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Likely pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515563

ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

no assertion criteria provided

Likely pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515563.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

Last Updated: Jun 23, 2024

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