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NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 10, 2019
Accession:
VCV000946232.2
Variation ID:
946232
Description:
single nucleotide variant
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NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)

Allele ID
927084
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50130666 (GRCh38) GRCh38 UCSC
14: 50597384 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50597384G>A
NC_000014.9:g.50130666G>A
NG_051073.1:g.106028C>T
NM_006939.4:c.3172C>T MANE Select NP_008870.2:p.Pro1058Ser missense
Protein change
P1058S
Other names
-
Canonical SPDI
NC_000014.9:50130665:G:A
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 May 10, 2019 RCV001217054.2
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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
(May 10, 2019)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV001388881.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces proline with serine at codon 1058 of the SOS2 protein (p.Pro1058Ser). The proline residue is highly conserved and there is a … (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 Oct 08, 2021