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NM_003036.4(SKI):c.100G>A (p.Gly34Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 11, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000200686.1

Allele description [Variation Report for NM_003036.4(SKI):c.100G>A (p.Gly34Ser)]

NM_003036.4(SKI):c.100G>A (p.Gly34Ser)

Gene:
SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
Other names:
p.G34S:GGC>AGC; NM_003036.3(SKI):c.100G>A(p.Gly34Ser)
HGVS:
  • NC_000001.11:g.2228866G>A
  • NG_013084.1:g.5172G>A
  • NM_003036.4:c.100G>AMANE SELECT
  • NP_003027.1:p.Gly34Ser
  • NC_000001.10:g.2160305G>A
  • NM_003036.3:c.100G>A
  • P12755:p.Gly34Ser
Protein change:
G34S; GLY34SER
Links:
UniProtKB: P12755#VAR_071176; OMIM: 164780.0004; dbSNP: rs387907306
NCBI 1000 Genomes Browser:
rs387907306
Molecular consequence:
  • NM_003036.4:c.100G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250672GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Dec 11, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000250672.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Gly34Ser (GGC>AGC): c.100 G>A in exon 1 of the SKI gene (NM_003036.3) The G34S mutation in the SKI gene has been reported in three individuals with clinical diagnoses of SGS (Doyle et al., 2012; Carmignac et al., 2012, Schepers et al., 2014). The Gly34 residue appears to be a recurrent mutation hotspot in the R-SMAD binding domain of the SKI gene, as different mutations impacting this amino acid (G34D, G34C, G34V) have been reported (Doyle et al., 2012; Carmignac et al., 2012, Schepers et al., 2014). Mutations in nearby residues (S31L, L32V, L32P, P35S, P35Q) have also been reported in association with SGS, further supporting the functional importance of this region of the protein. G34S results in a non-conservative amino acid substitution of Glycine at a position that is conserved, when present, across species. This variant was found in TAADV2-1,SKI

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024