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_002890.3(RASA1):c.248G>A (p.Gly83Glu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 14, 2017)
Last evaluated:
Jun 16, 2016
Accession:
VCV000354506.2
Variation ID:
354506
Description:
single nucleotide variant
Help

NM_002890.3(RASA1):c.248G>A (p.Gly83Glu)

Allele ID
305124
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87268699 (GRCh38) GRCh38 UCSC
5: 86564516 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87268699G>A
NC_000005.9:g.86564516G>A
NG_011650.1:g.5366G>A
NM_002890.3:c.248G>A MANE Select NP_002881.1:p.Gly83Glu missense
Protein change
G83E
Other names
-
Canonical SPDI
NC_000005.10:87268698:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10625338
dbSNP: rs755788420
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jun 16, 2016 RCV000280765.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000377938.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RASA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
89 457

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Parkes Weber Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000458943.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Capillary Malformation-Arteriovenous Malformation Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000458944.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 16, 2016)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation
Allele origin: germline
Invitae
Accession: SCV000552999.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces glycine with glutamic acid at codon 83 of the RASA1 protein (p.Gly83Glu). The glycine residue is weakly conserved and there is … (more)

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 rs755788420...

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 Nov 27, 2021