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NM_002890.3(RASA1):c.1290G>A (p.Gln430=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 4, 2018
Accession:
VCV000239409.2
Variation ID:
239409
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.1290G>A (p.Gln430=)

Allele ID
239860
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87353193 (GRCh38) GRCh38 UCSC
5: 86649010 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87353193G>A
NC_000005.9:g.86649010G>A
NG_011650.1:g.89860G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87353192:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA3335702
dbSNP: rs765869491
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 27, 2016 RCV000233174.1
Likely benign 1 criteria provided, single submitter Sep 4, 2018 RCV001449154.1
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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
89 450
CCNH - - GRCh38
GRCh37
4 365

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 27, 2016)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation
Allele origin: germline
Invitae
Accession: SCV000287748.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change affects codon 430 of the RASA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Likely benign
(Sep 04, 2018)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation
Allele origin: germline
Invitae
Accession: SCV001652260.1
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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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

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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 rs765869491...

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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 08, 2021