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NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 27, 2020
Accession:
VCV000445735.6
Variation ID:
445735
Description:
3bp deletion
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NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)

Allele ID
439007
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
14q21.3
Genomic location
14: 50585304-50585306 (GRCh37) GRCh37 UCSC
14: 50118586-50118588 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_006939.2:c.3755_3757del
NC_000014.8:g.50585305_50585307del
NC_000014.9:g.50118587_50118589del
... more HGVS
Protein change
I1252del
Other names
-
Canonical SPDI
NC_000014.9:50118585:TAAT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA7176713
dbSNP: rs775506222
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 8, 2017 RCV000515109.4
Likely benign 1 criteria provided, single submitter Feb 27, 2020 RCV001088680.2
Benign 1 criteria provided, single submitter Jul 27, 2020 RCV001251288.1
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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
Uncertain significance
(May 08, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610394.1
Submitted: (Oct 05, 2017)
Evidence details
Likely benign
(Feb 27, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV000656028.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 27, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001426823.1
Submitted: (Aug 06, 2020)
Evidence details
Comment:
Variant summary: SOS2 c.3755_3757delTTA (p.Ile1252del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant allele … (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.

Text-mined citations for rs775506222...

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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 08, 2021