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NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) AND Gray platelet syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 2011
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:
RCV000024118.4

Allele description [Variation Report for NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)]

NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)

Gene:
NBEAL2:neurobeachin like 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs)
HGVS:
  • NC_000003.12:g.47002756dup
  • NG_031914.1:g.28074dup
  • NM_001365116.2:c.5311dup
  • NM_015175.3:c.5413dupMANE SELECT
  • NP_001352045.1:p.Ala1771fs
  • NP_055990.1:p.Ala1805fs
  • NP_055990.1:p.Ala1805fs
  • LRG_568t1:c.5413dup
  • LRG_568:g.28074dup
  • LRG_568p1:p.Ala1805fs
  • NC_000003.11:g.47044246dup
  • NM_015175.2:c.5413dup
Note:
NCBI staff reviewed the sequence information reported in PubMed 21765413 Supplementary Fig. 3 to determine the location of this allele on the current reference sequence.
Protein change:
A1771fs
Links:
OMIM: 614169.0007; dbSNP: rs794726683
NCBI 1000 Genomes Browser:
rs794726683
Molecular consequence:
  • NM_001365116.2:c.5311dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_015175.3:c.5413dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045409OMIM
no assertion criteria provided
Pathogenic
(Jul 17, 2011) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.

Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J.

Nat Genet. 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884.

PubMed [citation]
PMID:
21765413
PMCID:
PMC6050511

Details of each submission

From OMIM, SCV000045409.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp duplication (5413dupG) in the NBEAL2 gene that was found in compound heterozygous state in patients with gray platelet syndrome (GPS; 139090) by Kahr et al. (2011), see 614169.0006.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022