Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 19, 2020
Accession:
VCV000542409.5
Variation ID:
542409
Description:
single nucleotide variant
Help

NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)

Allele ID
528522
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50130588 (GRCh38) GRCh38 UCSC
14: 50597306 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50597306T>C
NC_000014.9:g.50130588T>C
NG_051073.1:g.106106A>G
NM_006939.4:c.3250A>G MANE Select NP_008870.2:p.Thr1084Ala missense
Protein change
T1084A
Other names
-
Canonical SPDI
NC_000014.9:50130587:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00030
The Genome Aggregation Database (gnomAD) 0.00057
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00034
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00037
Links
ClinGen: CA7176852
dbSNP: rs150752193
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 19, 2020 RCV000652827.4
Likely benign 1 criteria provided, single submitter Feb 13, 2020 RCV001174921.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SOS2 - - GRCh38
GRCh37
466 482

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 13, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338357.1
Submitted: (Apr 29, 2020)
Evidence details
Comment:
Variant summary: SOS2 c.3250A>G (p.Thr1084Ala) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Likely benign
(Apr 19, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV000774699.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs150752193...

Help
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