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NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) AND Familial thoracic aortic aneurysm and aortic dissection

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 2023
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:
RCV003372648.2

Allele description [Variation Report for NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)]

NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)

Gene:
SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.32
Genomic location:
Preferred name:
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
Other names:
p.R357Q:CGG>CAG
HGVS:
  • NC_000001.11:g.2303078G>A
  • NG_013084.1:g.79384G>A
  • NM_003036.4:c.1070G>AMANE SELECT
  • NP_003027.1:p.Arg357Gln
  • NC_000001.10:g.2234517G>A
  • NM_003036.3:c.1070G>A
Protein change:
R357Q
Links:
dbSNP: rs200874294
NCBI 1000 Genomes Browser:
rs200874294
Molecular consequence:
  • NM_003036.4:c.1070G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial thoracic aortic aneurysm and aortic dissection (TAAD)
Synonyms:
Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Identifiers:
MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004094434Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 27, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M.

Genet Med. 2017 Sep;19(9):1040-1048. doi: 10.1038/gim.2016.224. Epub 2017 Mar 2.

PubMed [citation]
PMID:
28252636
PMCID:
PMC5581723

Details of each submission

From Ambry Genetics, SCV004094434.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R357Q variant (also known as c.1070G>A), located in coding exon 2 of the SKI gene, results from a G to A substitution at nucleotide position 1070. The arginine at codon 357 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported in a whole exome sequencing cohort in an individual with developmental delays and multiple congenital anomalies (Baldridge D et al. Genet Med, 2017 Sep;19:1040-1048). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024