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NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro) AND Shprintzen-Goldberg syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 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:
RCV003516704.1

Allele description [Variation Report for NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)]

NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)

Gene:
SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_003036.4(SKI):c.195_196delinsAC (p.Ala66Pro)
HGVS:
  • NC_000001.11:g.2228961_2228962delinsAC
  • NG_013084.1:g.5267_5268delinsAC
  • NM_003036.4:c.195_196delinsACMANE SELECT
  • NP_003027.1:p.Ala66Pro
  • NC_000001.10:g.2160400_2160401delinsAC
Protein change:
A66P
Molecular consequence:
  • NM_003036.4:c.195_196delinsAC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Shprintzen-Goldberg syndrome (SGS)
Synonyms:
Shprintzen-Goldberg craniosynostosis syndrome; Craniosynostosis with arachnodactyly and abdominal hernias; Marfanoid disorder with craniosynostosis type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008426; MedGen: C1321551; Orphanet: 2462; OMIM: 182212

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004369325Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 9, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004369325.1

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

Description

Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SKI-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 66 of the SKI protein (p.Ala66Pro). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 20, 2024