U.S. flag

An official website of the United States government

NM_020751.3(COG6):c.65A>G (p.Asn22Ser) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 26, 2023
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:
RCV000528926.9

Allele description [Variation Report for NM_020751.3(COG6):c.65A>G (p.Asn22Ser)]

NM_020751.3(COG6):c.65A>G (p.Asn22Ser)

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.65A>G (p.Asn22Ser)
HGVS:
  • NC_000013.11:g.39655791A>G
  • NG_028352.1:g.5165A>G
  • NM_001145079.2:c.65A>G
  • NM_020751.3:c.65A>GMANE SELECT
  • NP_001138551.1:p.Asn22Ser
  • NP_065802.1:p.Asn22Ser
  • NC_000013.10:g.40229928A>G
  • NM_020751.2:c.65A>G
  • NR_026745.1:n.165A>G
Protein change:
N22S
Links:
dbSNP: rs149055210
NCBI 1000 Genomes Browser:
rs149055210
Molecular consequence:
  • NM_001145079.2:c.65A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020751.3:c.65A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_026745.1:n.165A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
COG6-ongenital disorder of glycosylation
Synonyms:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG IIl; Congenital disorder of glycosylation type 2L; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013810; MedGen: C3553230; OMIM: 614576
Name:
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonyms:
Shaheen syndrome
Identifiers:
MONDO: MONDO:0014131; MedGen: C3809160; Orphanet: 363523; OMIM: 615328

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000652563Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Oct 26, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000652563.6

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

Last Updated: Oct 8, 2024