NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) AND Platelet-type bleeding disorder 16

Germline classification:: 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:: RCV002245948.3

Allele description [Variation Report for NM_000212.3(ITGB3):c.709_710del (p.Ser237fs)]

NM_000212.3(ITGB3):c.709_710del (p.Ser237fs)

Gene:

ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q21.32

Genomic location:

Preferred name:

NM_000212.3(ITGB3):c.709_710del (p.Ser237fs)

HGVS:

NC_000017.11:g.47286352AG[1]
NG_008332.2:g.37511AG[1]
NM_000212.3:c.709_710delMANE SELECT
NP_000203.2:p.Ser237fs
LRG_481:g.37511AG[1]
NC_000017.10:g.45363718AG[1]
NC_000017.10:g.45363718_45363719del
NC_000017.11:g.47286354_47286355del
NM_000212.2:c.709_710delAG

Protein change:

S237fs

Links:

dbSNP: rs746626039

NCBI 1000 Genomes Browser:

rs746626039

Molecular consequence:

NM_000212.3:c.709_710del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002515564	ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	no assertion criteria provided	Pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515564

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

no assertion criteria provided

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, SCV002515564.1

#	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: Sep 29, 2024

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