NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) AND Gray platelet syndrome

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000851838.2

Allele description [Variation Report for NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)]

NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln)

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.6359G>A (p.Arg2120Gln)
HGVS:
  • NC_000003.12:g.47005036G>A
  • NG_031914.1:g.30354G>A
  • NM_001365116.2:c.6257G>A
  • NM_015175.2:c.6359G>A
  • NM_015175.3:c.6359G>AMANE SELECT
  • NP_001352045.1:p.Arg2086Gln
  • NP_055990.1:p.Arg2120Gln
  • NP_055990.1:p.Arg2120Gln
  • LRG_568t1:c.6359G>A
  • LRG_568:g.30354G>A
  • LRG_568p1:p.Arg2120Gln
  • NC_000003.11:g.47046526G>A
Protein change:
R2086Q
Links:
dbSNP: rs762258197
NCBI 1000 Genomes Browser:
rs762258197
Molecular consequence:
  • NM_001365116.2:c.6257G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015175.2:c.6359G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015175.3:c.6359G>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000899839NIHR Bioresource Rare Diseases, University of Cambridgecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2020)
inheritedresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes3not providednot providednot providednot providedresearch

Citations

PubMed

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, et al.

Blood. 2020 Oct 22;136(17):1956-1967. doi: 10.1182/blood.2019004776.

PubMed [citation]
PMID:
32693407
PMCID:
PMC7582559

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
See all PubMed Citations (3)

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000899839.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (3)

Description

ACMG criteria: PM2, PM3, PP1_supporting, PP3, PP4, PS4_supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 25, 2021

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