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NM_006939.4(SOS2):c.2162-10C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 18, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000475743.7
Variation ID:
475743
Description:
single nucleotide variant
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NM_006939.4(SOS2):c.2162-10C>T

Allele ID
463287
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50150240 (GRCh38) GRCh38 UCSC
14: 50616958 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50616958G>A
NC_000014.9:g.50150240G>A
NG_051073.1:g.86454C>T
NM_006939.4:c.2162-10C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:50150239:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
Trans-Omics for Precision Medicine (TOPMed) 0.00036
Exome Aggregation Consortium (ExAC) 0.00050
The Genome Aggregation Database (gnomAD) 0.00016
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00057
Links
ClinGen: CA7177102
dbSNP: rs375702667
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 Oct 14, 2020 RCV000538946.4
Benign 1 criteria provided, single submitter Apr 27, 2020 RCV001175095.1
Benign 1 criteria provided, single submitter Jul 27, 2018 RCV001675932.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SOS2 - - GRCh38
GRCh37
467 483

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV000656013.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 27, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338665.1
Submitted: (May 13, 2020)
Evidence details
Comment:
Variant summary: SOS2 c.2162-10C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (more)
Benign
(Jul 27, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001894043.1
Submitted: (Sep 18, 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 rs375702667...

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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 08, 2021