U.S. flag

An official website of the United States government

NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) AND Global developmental delay

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 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:
RCV001255407.4

Allele description [Variation Report for NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)]

NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)

Gene:
PCGF2:polycomb group ring finger 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
HGVS:
  • NC_000017.11:g.38739601G>A
  • NM_001369614.1:c.194C>T
  • NM_001369615.1:c.194C>T
  • NM_007144.3:c.194C>TMANE SELECT
  • NP_001356543.1:p.Pro65Leu
  • NP_001356544.1:p.Pro65Leu
  • NP_009075.1:p.Pro65Leu
  • NC_000017.10:g.36895854G>A
  • NM_007144.2:c.194C>T
Protein change:
P65L; PRO65LEU
Links:
OMIM: 600346.0001
Molecular consequence:
  • NM_001369614.1:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369615.1:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007144.3:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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
SCV001431807Génétique des Maladies du Développement, Hospices Civils de Lyon
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2019) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

The proportion of correct diagnoses is low in emergency patients with nonspecific complaints presenting to the emergency department.

Peng A, Rohacek M, Ackermann S, Ilsemann-Karakoumis J, Ghanim L, Messmer AS, Misch F, Nickel CH, Bingisser R.

Swiss Med Wkly. 2015;145:w14121. doi: 10.4414/smw.2015.14121.

PubMed [citation]
PMID:
25741894

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001431807.1

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

Last Updated: Jun 29, 2024