U.S. flag

An official website of the United States government

NM_003036.4(SKI):c.1109T>C (p.Val370Ala) AND Shprintzen-Goldberg syndrome

Germline classification:
Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:
Aug 2, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV001857959.7

Allele description [Variation Report for NM_003036.4(SKI):c.1109T>C (p.Val370Ala)]

NM_003036.4(SKI):c.1109T>C (p.Val370Ala)

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.1109T>C (p.Val370Ala)
HGVS:
  • NC_000001.11:g.2303298T>C
  • NG_013084.1:g.79604T>C
  • NM_003036.4:c.1109T>CMANE SELECT
  • NP_003027.1:p.Val370Ala
  • NC_000001.10:g.2234737T>C
  • NM_003036.3:c.1109T>C
Protein change:
V370A
Links:
dbSNP: rs138088528
NCBI 1000 Genomes Browser:
rs138088528
Molecular consequence:
  • NM_003036.4:c.1109T>C - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002210879Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Aug 2, 2023)
germlineclinical testing

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

SCV002775591Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Sep 15, 2021)
unknownclinical testing

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

SCV004565030ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Uncertain significance
(Apr 17, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002210879.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002775591.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004565030.1

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

Description

The SKI c.1109T>C; p.Val370Ala variant (rs138088528), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 449711). This variant is found in the non-Finnish European population with an allele frequency of 0.0093% (12/129,096 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.172). Due to limited information, the clinical significance of this variant is uncertain at this time.

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

Last Updated: Feb 8, 2025