U.S. flag

An official website of the United States government

NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr) AND Gray platelet syndrome

Germline classification:
Uncertain significance (1 submission)
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:
RCV003313900.2

Allele description [Variation Report for NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)]

NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)

Gene:
NBEAL2:neurobeachin like 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)
HGVS:
  • NC_000003.12:g.47000006C>A
  • NG_031914.1:g.25324C>A
  • NM_001365116.2:c.3805C>A
  • NM_015175.3:c.3907C>AMANE SELECT
  • NP_001352045.1:p.Pro1269Thr
  • NP_055990.1:p.Pro1303Thr
  • NP_055990.1:p.Pro1303Thr
  • LRG_568t1:c.3907C>A
  • LRG_568:g.25324C>A
  • LRG_568p1:p.Pro1303Thr
  • NC_000003.11:g.47041496C>A
  • NM_015175.2:c.3907C>A
Protein change:
P1269T
Molecular consequence:
  • NM_001365116.2:c.3805C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015175.3:c.3907C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gray platelet syndrome (GPS)
Synonyms:
Platelet alpha-granule deficiency; Marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins; BLEEDING DISORDER, PLATELET-TYPE, 4
Identifiers:
MONDO: MONDO:0007686; MedGen: C0272302; Orphanet: 721; OMIM: 139090

Recent activity

Clear Turn Off Turn On
  • Tuberculosis, Osteoarticular
    Tuberculosis, Osteoarticular
    Tuberculosis of the bones or joints.<br/>
    MeSH
  • Pelvic Infection
    Pelvic Infection
    Infection involving the tissues or organs in the PELVIS.<br/>Year introduced: 2003
    MeSH
  • Exotropia
    Exotropia
    A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will dev...<br/>Year introduced: 1990(1983)
    MeSH
  • Cardiovascular Infections
    Cardiovascular Infections
    Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infections.<br/>Year introduced: 2007
    MeSH
  • Neurosurgical Procedures
    Neurosurgical Procedures
    Surgery performed on the nervous system or its parts.<br/>Year introduced: 1998
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013118ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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 ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV004013118.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024