NM_020751.3(COG6):c.1167-24A>G AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000162165.4

Allele description [Variation Report for NM_020751.3(COG6):c.1167-24A>G]

NM_020751.3(COG6):c.1167-24A>G

Gene:

COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.11

Genomic location:

Preferred name:

NM_020751.3(COG6):c.1167-24A>G

HGVS:

NC_000013.11:g.39699477A>G
NG_028352.1:g.48851A>G
NM_001145079.2:c.1167-24A>G
NM_020751.3:c.1167-24A>GMANE SELECT
NC_000013.10:g.40273614A>G
NM_020751.2:c.1167-24A>G

Nucleotide change:

IVS12AS, A-G, -24

Links:

OMIM: 606977.0002; dbSNP: rs730882236

NCBI 1000 Genomes Browser:

rs730882236

Molecular consequence:

NM_001145079.2:c.1167-24A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_020751.3:c.1167-24A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hypohidrosis
Identifiers:: MedGen: C0020620; Human Phenotype Ontology: HP:0000966

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000196451	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	no assertion criteria provided (research)	Likely pathogenic (Dec 1, 2014)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000196451

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

no assertion criteria provided

(research)

Likely pathogenic
(Dec 1, 2014)

germline

research

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	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, et al.

Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.

PubMed [citation]

PMID:: 25558065

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV000196451.1

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

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

Last Updated: Nov 24, 2024

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