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NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe)

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Interpretation:
Benign​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 18, 2017
Accession:
VCV000448942.4
Variation ID:
448942
Description:
single nucleotide variant
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NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe)

Allele ID
442515
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p22.1
Genomic location
2: 39013920 (GRCh38) GRCh38 UCSC
2: 39241061 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.39013920C>G
NC_000002.11:g.39241061C>G
NM_005633.3:c.2010G>C NP_005624.2:p.Leu670Phe missense
... more HGVS
Protein change
L670F
Other names
NM_005633.3(SOS1):c.2010G>C
Canonical SPDI
NC_000002.12:39013919:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00007
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00008
Links
ClinGen: CA1624490
dbSNP: rs200712930
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 reviewed by expert panel Apr 18, 2017 RCV000518853.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SOS1 No evidence available No evidence available GRCh38
GRCh37
729 761

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 18, 2017)
reviewed by expert panel
Method: curation
Noonan syndrome and Noonan-related syndrome
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen RASopathy Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV000616515.3
Submitted: (Feb 25, 2019)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The filtering allele frequency of the c.2010G>C (p.Leu670Phe) variant in the SOS1 gene is 0.055% (9/8572) of East Asian chromosomes by the Exome Aggregation Consortium, … (more)
Likely benign
(Mar 16, 2020)
criteria provided, single submitter
Method: clinical testing
Rasopathy
Allele origin: germline
Invitae
Accession: SCV000776847.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/42ea487d-ec44-44f7-a90a-ac98312de0f1 - - - -

Text-mined citations for rs200712930...

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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 Aug 27, 2021