NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV000059689.1

Allele description [Variation Report for NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly)]

NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly)

Genes:

LOC126859653:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:31929542-31930741 [Gene]
SKIC2:SKI2 subunit of superkiller complex [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

Preferred name:

NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly)

Other names:

V341G

HGVS:

NC_000006.12:g.31962012T>G
NG_032652.1:g.8209T>G
NG_084154.1:g.348T>G
NM_006929.5:c.1022T>GMANE SELECT
NP_008860.4:p.Val341Gly
NC_000006.11:g.31929789T>G
NM_006929.4:c.1022T>G
Q15477:p.Val341Gly

Note:

ClinVar calculated incorrect HGVS for this variant (NM_006929.5:c.2572del) in the September 2019 release, based on an error in OMIM. This was corrected in the February 2023 release (NM_006929.5:c.1022T>G).

Protein change:

VAL341GLY

Links:

UniProtKB: Q15477#VAR_067721; UniProtKB/Swiss-Prot: VAR_067721; OMIM: 600478.0002; dbSNP: rs1582171003

NCBI 1000 Genomes Browser:

rs1582171003

Molecular consequence:

NM_006929.5:c.1022T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000091259	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000091259

UniProtKB/Swiss-Prot

no classification provided

not provided

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C.

Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22.

PubMed [citation]

PMID:: 22444670
PMCID:: PMC3322239

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091259.1

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

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

Last Updated: Mar 26, 2023

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