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NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV001044427.1
Variation ID:
1044427
Description:
single nucleotide variant
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NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)

Allele ID
1031618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q21.3
Genomic location
14: 50118699 (GRCh38) GRCh38 UCSC
14: 50585417 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.50585417G>C
NC_000014.9:g.50118699G>C
NG_051073.1:g.117995C>G
NM_006939.4:c.3644C>G MANE Select NP_008870.2:p.Thr1215Ser missense
Protein change
T1215S
Other names
-
Canonical SPDI
NC_000014.9:50118698:G:C
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 14, 2020 RCV001348666.1
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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
466 482

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 9
Allele origin: germline
Invitae
Accession: SCV001542975.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with serine at codon 1215 of the SOS2 protein (p.Thr1215Ser). The threonine 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