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NM_006939.4(SOS2):c.1935-20C>G

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 2, 2020)
Last evaluated:
Nov 16, 2020
Accession:
VCV000987786.1
Variation ID:
987786
Description:
single nucleotide variant
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NM_006939.4(SOS2):c.1935-20C>G

Allele ID
975822
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50157141 (GRCh38) GRCh38 UCSC
14: 50623859 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50623859G>C
NC_000014.9:g.50157141G>C
NM_006939.4:c.1935-20C>G MANE Select
NG_051073.1:g.79553C>G
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:50157140:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Nov 16, 2020 RCV001269092.1
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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
Benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001448331.1
Submitted: (Dec 02, 2020)
Evidence details
Comment:
Variant summary: SOS2 c.1935-20C>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly … (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.

Record last updated Jun 14, 2021