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NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 26, 2020
Accession:
VCV000354525.4
Variation ID:
354525
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.2603C>T (p.Pro868Leu)

Allele ID
298331
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87379850 (GRCh38) GRCh38 UCSC
5: 86675667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87379850C>T
NC_000005.9:g.86675667C>T
NG_011650.1:g.116517C>T
... more HGVS
Protein change
P868L, P691L
Other names
-
Canonical SPDI
NC_000005.10:87379849:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA3336027
dbSNP: rs138785106
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000285687.3
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000343253.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000681077.1
Uncertain significance 1 criteria provided, single submitter Jun 26, 2020 RCV001034623.2
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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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Parkes Weber Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000458988.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Capillary Malformation-Arteriovenous Malformation Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000458987.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000808531.1
Submitted: (Sep 14, 2018)
Evidence details
Comment:
A variant of uncertain significance has been identified in the RASA1 gene. Although the P868L variant has not been published as pathogenic or been reported … (more)
Uncertain significance
(Jun 26, 2020)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation
Allele origin: germline
Invitae
Accession: SCV000552994.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with leucine at codon 868 of the RASA1 protein (p.Pro868Leu). The proline residue is highly conserved and there is a … (more)

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 rs138785106...

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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 Sep 29, 2021