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NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) AND Autosomal recessive nonsyndromic hearing loss 70

Germline classification:
Pathogenic (1 submission)
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:
RCV001249184.2

Allele description [Variation Report for NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)]

NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser)

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.1619A>G (p.Asn540Ser)
HGVS:
  • NC_000002.12:g.55646470T>C
  • NG_033012.1:g.52441A>G
  • NM_033109.5:c.1619A>GMANE SELECT
  • NP_149100.2:p.Asn540Ser
  • NC_000002.11:g.55873605T>C
  • NC_000002.11:g.55873605T>C
  • NM_033109.4:c.1619A>G
  • p.N540S
Protein change:
N540S
Links:
dbSNP: rs202190573
NCBI 1000 Genomes Browser:
rs202190573
Molecular consequence:
  • NM_033109.5:c.1619A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001366118Hereditary Hearing Loss Research Unit, University of Madras
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenicgermlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asiangermlineyes1not providednot providednot providednot providedcase-control

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

Details of each submission

From Hereditary Hearing Loss Research Unit, University of Madras, SCV001366118.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024