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.7225-1G>C

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Jan 19, 2020
Most recent Submission:
Jan 19, 2020
Last evaluated:
Jun 20, 2019
Accession:
VCV000804437.2
Variation ID:
804437
Description:
single nucleotide variant
Help

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

Allele ID
792738
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.31
Genomic location
3: 47007240 (GRCh38) GRCh38 UCSC
3: 47048730 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_015175.3:c.7225-1G>C MANE Select splice acceptor
NM_001365116.2:c.7123-1G>C splice acceptor
NC_000003.12:g.47007240G>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:47007239:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1575628744
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 Jun 20, 2019 RCV000991418.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NBEAL2 - - GRCh38
GRCh37 		412 431

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Likely pathogenic
(Jun 20, 2019)
 criteria provided, single submitter
(ACMG Guidelines, 2015)
Method: clinical testing
 Gray platelet syndrome
(Autosomal recessive inheritance)
Affected status: yes
Allele origin: germline
Hadassah Hebrew University Medical Center
Accession: SCV001142815.2
First in ClinVar: Jan 19, 2020
Last updated: Jan 19, 2020

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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1575628744...

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 Apr 25, 2022 

Help