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NM_002890.3(RASA1):c.2691-4T>C

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 2, 2018
Accession:
VCV000697487.2
Variation ID:
697487
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.2691-4T>C

Allele ID
689801
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87383709 (GRCh38) GRCh38 UCSC
5: 86679526 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.86679526T>C
NC_000005.10:g.87383709T>C
NC_000005.9:g.86679526T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87383708:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
1000 Genomes Project 0.00060
Links
dbSNP: rs201365157
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 May 2, 2018 RCV000864376.1
Likely benign 1 criteria provided, single submitter Apr 28, 2018 RCV001423718.1
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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
(May 02, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001005166.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 28, 2018)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation
Allele origin: germline
Invitae
Accession: SCV001626300.1
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 rs201365157...

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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 24, 2021