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NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 20, 2019
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:
RCV000251995.2

Allele description

NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)

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.1309G>A (p.Ala437Thr)
HGVS:
  • NC_000001.11:g.2303937G>A
  • NG_013084.1:g.80243G>A
  • NM_003036.4:c.1309G>AMANE SELECT
  • NP_003027.1:p.Ala437Thr
  • NC_000001.10:g.2235376G>A
  • NM_003036.3:c.1309G>A
Protein change:
A437T
Links:
dbSNP: rs544709718
NCBI 1000 Genomes Browser:
rs544709718
Molecular consequence:
  • NM_003036.4:c.1309G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319389Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Benign
(Jun 20, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319389.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Other data supporting benign classification;Other strong data supporting benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 19, 2022