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NM_006939.4(SOS2):c.1344G>A (p.Leu448=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 14, 2020
Accession:
VCV000389391.6
Variation ID:
389391
Description:
single nucleotide variant
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NM_006939.4(SOS2):c.1344G>A (p.Leu448=)

Allele ID
376070
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50159939 (GRCh38) GRCh38 UCSC
14: 50626657 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50626657C>T
NC_000014.9:g.50159939C>T
NG_051073.1:g.76755G>A
NM_006939.4:c.1344G>A MANE Select NP_008870.2:p.Leu448= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000014.9:50159938:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00328
Trans-Omics for Precision Medicine (TOPMed) 0.00354
1000 Genomes Project 0.00120
Exome Aggregation Consortium (ExAC) 0.00418
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00331
The Genome Aggregation Database (gnomAD), exomes 0.00364
Links
ClinGen: CA7177290
dbSNP: rs35530861
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Apr 12, 2017 RCV000588482.5
Benign 1 criteria provided, single submitter Nov 14, 2020 RCV001084699.3
Benign 1 no assertion criteria provided - RCV001706637.1
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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
(Apr 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698736.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The SOS2 c.1344G>A (p.Leu448Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a … (more)
Benign
(Oct 07, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000531907.5
Submitted: (Sep 14, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Nov 14, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV000656008.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922251.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955398.1
Submitted: (Sep 30, 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 rs35530861...

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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 02, 2021