Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 23, 2020)
Last evaluated:
Mar 1, 2020
Accession:
VCV000627106.2
Variation ID:
627106
Description:
single nucleotide variant
Help

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

Allele ID
615344
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 47005036 (GRCh38) GRCh38 UCSC
3: 47046526 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015175.2:c.6359G>A NP_055990.1:p.Arg2120Gln missense
LRG_568:g.30354G>A
LRG_568t1:c.6359G>A LRG_568p1:p.Arg2120Gln
... more HGVS
Protein change
R2120Q, R2086Q
Other names
-
Canonical SPDI
NC_000003.12:47005035:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs762258197
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 1, 2020 RCV000851838.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NBEAL2 - - GRCh38
GRCh37
300 317

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2020)
criteria provided, single submitter
Method: research
Gray platelet syndrome
(Autosomal recessive inheritance)
Allele origin: inherited
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000899839.2
Submitted: (Oct 23, 2020)
Evidence details
Publications
PubMed (2)
Comment:
ACMG criteria: PM2, PM3, PP1_supporting, PP3, PP4, PS4_supporting

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. Sims MC Blood 2020 PMID: 32693407
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Downes K Blood 2019 PMID: 31064749

Text-mined citations for rs762258197...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021