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NM_006939.4(SOS2):c.2385-3T>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 24, 2020
Accession:
VCV000949288.2
Variation ID:
949288
Description:
single nucleotide variant
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NM_006939.4(SOS2):c.2385-3T>C

Allele ID
941061
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50145599 (GRCh38) GRCh38 UCSC
14: 50612317 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50612317A>G
NC_000014.9:g.50145599A>G
NG_051073.1:g.91095T>C
NM_006939.4:c.2385-3T>C MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:50145598:A:G
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
Uncertain significance 1 criteria provided, single submitter Aug 24, 2020 RCV001220723.2
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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
Uncertain significance
(Aug 24, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV001392732.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 14 of the SOS2 gene. It does not directly change the encoded amino acid sequence of the SOS2 protein, … (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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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Record last updated Oct 08, 2021