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NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 5, 2021)
Last evaluated:
Dec 27, 2018
Accession:
VCV001033550.1
Variation ID:
1033550
Description:
2bp deletion
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NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)

Allele ID
1020127
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
5q14.3
Genomic location
5: 87378502-87378503 (GRCh38) GRCh38 UCSC
5: 86674319-86674320 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87378503_87378504del
NC_000005.9:g.86674320_86674321del
NG_011650.1:g.115170_115171del
... more HGVS
Protein change
I641fs, I818fs
Other names
-
Canonical SPDI
NC_000005.10:87378501:TAT: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 pathogenic 1 criteria provided, single submitter Dec 27, 2018 RCV001335991.1
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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 pathogenic
(Dec 27, 2018)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation 1
Allele origin: maternal
Baylor Genetics
Accession: SCV001529259.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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