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NM_002890.3(RASA1):c.*572C>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000354540.3
Variation ID:
354540
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.*572C>A

Allele ID
305187
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87391455 (GRCh38) GRCh38 UCSC
5: 86687272 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87391455C>A
NC_000005.9:g.86687272C>A
NG_011650.1:g.128122C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87391454:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10625365
dbSNP: rs886060848
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 Jun 14, 2016 RCV000364112.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000401955.2
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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
89 456
CCNH - - GRCh38
GRCh37
4 371

Submitted interpretations and evidence

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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: SCV000459017.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459018.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 rs886060848...

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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 Nov 27, 2021