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NM_002890.3(RASA1):c.*733_*735ATT[1]

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000354541.2
Variation ID:
354541
Description:
3bp microsatellite
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NM_002890.3(RASA1):c.*733_*735ATT[1]

Allele ID
300640
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
5q14.3
Genomic location
5: 87391615-87391617 (GRCh38) GRCh38 UCSC
5: 86687432-86687434 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.87391616_87391618ATT[1]
NC_000005.9:g.86687433_86687435ATT[1]
NG_011650.1:g.128283_128285ATT[1]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:87391614:TATTATT:TATT
Functional consequence
-
Global minor allele frequency (GMAF)
0.01418 (TATT)

Allele frequency
-
Links
ClinGen: CA10622417
dbSNP: rs374889193
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 RCV000306095.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000358528.2
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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
Capillary Malformation-Arteriovenous Malformation Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459020.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Parkes Weber Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000459019.2
Submitted: (Oct 18, 2016)
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 rs374889193...

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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 Sep 29, 2021