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NM_002890.3(RASA1):c.2724C>T (p.Ala908=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 15, 2020
Accession:
VCV001096543.1
Variation ID:
1096543
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.2724C>T (p.Ala908=)

Allele ID
1073049
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87383746 (GRCh38) GRCh38 UCSC
5: 86679563 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87383746C>T
NC_000005.9:g.86679563C>T
NG_011650.1:g.120413C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87383745:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jul 15, 2020 RCV001417795.1
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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
Likely benign
(Jul 15, 2020)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation
Allele origin: germline
Invitae
Accession: SCV001620000.1
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.

Record last updated Oct 24, 2021