NM_003036.4(SKI):c.1196C>T (p.Ala399Val) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Aug 10, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000195594.17

Allele description [Variation Report for NM_003036.4(SKI):c.1196C>T (p.Ala399Val)]

NM_003036.4(SKI):c.1196C>T (p.Ala399Val)

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.1196C>T (p.Ala399Val)

Other names:

p.A399V:GCC>GTC

HGVS:

NC_000001.11:g.2303385C>T
NG_013084.1:g.79691C>T
NM_003036.4:c.1196C>TMANE SELECT
NP_003027.1:p.Ala399Val
NC_000001.10:g.2234824C>T
NM_003036.3:c.1196C>T

Protein change:

A399V

Links:

dbSNP: rs141862996

NCBI 1000 Genomes Browser:

rs141862996

Molecular consequence:

NM_003036.4:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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LOC112268173 [Homo sapiens]
LOC112268173 [Homo sapiens]
Gene ID:112268173

Gene
PPP1R1AP2 protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 2 [Ho...
PPP1R1AP2 protein phosphatase 1 regulatory inhibitor subunit 1A pseudogene 2 [Homo sapiens]
Gene ID:100129627

Gene
Umbilical Arteries
Umbilical Arteries
Specialized arterial vessels in the umbilical cord. They carry waste and deoxygenated blood from the FETUS to the mother via the PLACENTA. In humans, there are usually two umb...<br/>Year introduced: 1968(1964)

MeSH
LINC02167 long intergenic non-protein coding RNA 2167 [Homo sapiens]
LINC02167 long intergenic non-protein coding RNA 2167 [Homo sapiens]
Gene ID:400533

Gene
IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 (pseudogene) [Homo sapiens]
IGHVII-22-1 immunoglobulin heavy variable (II)-22-1 (pseudogene) [Homo sapiens]
Gene ID:28374

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000309349	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004038949	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Aug 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000309349

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

SCV004038949

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Aug 10, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 PreventionGenetics, part of Exact Sciences, SCV000309349.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004038949.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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