NM_015175.3(NBEAL2):c.7225-1G>C AND Gray platelet syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jun 20, 2019)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

Help

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000991418.1

Allele description [Variation Report for NM_015175.3(NBEAL2):c.7225-1G>C]

NM_015175.3(NBEAL2):c.7225-1G>C

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.7225-1G>C

HGVS:

NC_000003.12:g.47007240G>C
NG_031914.1:g.32558G>C
NM_001365116.2:c.7123-1G>C
NM_015175.3:c.7225-1G>CMANE SELECT
LRG_568:g.32558G>C
NC_000003.11:g.47048730G>C

Links:

dbSNP: rs1575628744

NCBI 1000 Genomes Browser:

rs1575628744

Molecular consequence:

NM_001365116.2:c.7123-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_015175.3:c.7225-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001142815	Hadassah Hebrew University Medical Center	criteria provided, single submitter ACMG Guidelines, 2015	Likely pathogenic (Jun 20, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001142815

Hadassah Hebrew University Medical Center

criteria provided, single submitter

ACMG Guidelines, 2015

Likely pathogenic
(Jun 20, 2019)

germline

clinical testing

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

Summary from all submissions

Help

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Hadassah Hebrew University Medical Center, SCV001142815.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Apr 23, 2022

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