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NM_002890.3(RASA1):c.2691-11C>T

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 2, 2021)
Last evaluated:
Aug 20, 2018
Accession:
VCV000354527.4
Variation ID:
354527
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.2691-11C>T

Allele ID
298335
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87383702 (GRCh38) GRCh38 UCSC
5: 86679519 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87383702C>T
NC_000005.9:g.86679519C>T
NG_011650.1:g.120369C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87383701:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00062
Trans-Omics for Precision Medicine (TOPMed) 0.00089
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00264
Exome Aggregation Consortium (ExAC) 0.00335
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00308
The Genome Aggregation Database (gnomAD), exomes 0.00355
Links
ClinGen: CA3336073
dbSNP: rs149730288
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 RCV000337398.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000396388.2
Likely benign 1 criteria provided, single submitter Aug 20, 2018 RCV001591020.3
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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
89 457
CCNH - - GRCh38
GRCh37
4 372

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: SCV000458992.2
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: SCV000458991.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Aug 20, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001823447.1
Submitted: (Sep 02, 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 rs149730288...

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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