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NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) 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:
RCV000162156.3

Allele description [Variation Report for NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)]

NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)

Gene:
PTRH2:peptidyl-tRNA hydrolase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.1
Genomic location:
Preferred name:
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
HGVS:
  • NC_000017.11:g.59697725T>G
  • NG_042064.1:g.14874A>C
  • NG_047043.1:g.83037T>G
  • NM_001015509.3:c.257A>C
  • NM_016077.5:c.254A>CMANE SELECT
  • NP_001015509.1:p.Gln86Pro
  • NP_001015509.1:p.Gln86Pro
  • NP_057161.1:p.Gln85Pro
  • NP_057161.1:p.Gln85Pro
  • NC_000017.10:g.57775086T>G
  • NM_001015509.2:c.257A>C
  • NM_016077.3:c.254A>C
  • NM_016077.4:c.254A>C
  • Q9Y3E5:p.Gln85Pro
Protein change:
Q85P; GLN85PRO
Links:
UniProtKB: Q9Y3E5#VAR_073386; OMIM: 608625.0002; dbSNP: rs730882234
NCBI 1000 Genomes Browser:
rs730882234
Molecular consequence:
  • NM_001015509.3:c.257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016077.5:c.254A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebellar ataxia
Identifiers:
MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Hearing impairment
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196442Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
no assertion criteria provided

(research)		Likely pathogenic
(Dec 1, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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, SCV000196442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024