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NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000765691.2

Allele description [Variation Report for NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)]

NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)

Gene:
PNPT1:polyribonucleotide nucleotidyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.1
Genomic location:
Preferred name:
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln)
HGVS:
  • NC_000002.12:g.55673071C>G
  • NG_033012.1:g.25840G>C
  • NM_033109.5:c.688G>CMANE SELECT
  • NP_149100.2:p.Glu230Gln
  • NC_000002.11:g.55900206C>G
  • NM_033109.3:c.688G>C
  • NM_033109.4:c.688G>C
  • Q8TCS8:p.Glu230Gln
  • p.E230Q
Protein change:
E230Q
Links:
UniProtKB: Q8TCS8#VAR_050610; dbSNP: rs34928857
NCBI 1000 Genomes Browser:
rs34928857
Molecular consequence:
  • NM_033109.5:c.688G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined oxidative phosphorylation defect type 13
Synonyms:
Combined oxidative phosphorylation deficiency 13
Identifiers:
MONDO: MONDO:0013977; MedGen: C4706283; Orphanet: 319514; OMIM: 614932
Name:
Autosomal recessive nonsyndromic hearing loss 70
Synonyms:
Deafness, autosomal recessive 70
Identifiers:
MONDO: MONDO:0013978; MedGen: C1824925; Orphanet: 90636; OMIM: 614934

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000897033Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000897033.1

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

Last Updated: Feb 25, 2025