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NM_002890.3(RASA1):c.829-12T>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000354512.3
Variation ID:
354512
Description:
single nucleotide variant
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NM_002890.3(RASA1):c.829-12T>A

Allele ID
304923
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.3
Genomic location
5: 87333255 (GRCh38) GRCh38 UCSC
5: 86629072 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87333255T>A
NC_000005.9:g.86629072T>A
NG_011650.1:g.69922T>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87333254:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00264
Exome Aggregation Consortium (ExAC) 0.00079
The Genome Aggregation Database (gnomAD), exomes 0.00066
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00138
1000 Genomes Project 0.00379
The Genome Aggregation Database (gnomAD) 0.00256
Links
ClinGen: CA3335577
dbSNP: rs187379673
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000264332.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000361365.2
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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
89 450
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
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Parkes Weber Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000458957.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Capillary malformation-arteriovenous malformation 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000458958.3
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 rs187379673...

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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