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NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter) AND Retinitis pigmentosa 76

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 2, 2015
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:
RCV000984205.1

Allele description [Variation Report for NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)]

NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)

Genes:
POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)
HGVS:
  • NC_000001.11:g.46193874G>A
  • NG_009205.3:g.31432C>T
  • NM_001243766.2:c.931C>T
  • NM_001290129.2:c.865C>T
  • NM_001290130.2:c.502C>T
  • NM_017739.4:c.931C>TMANE SELECT
  • NP_001230695.2:p.Arg311Ter
  • NP_001277058.2:p.Arg289Ter
  • NP_001277059.2:p.Arg168Ter
  • NP_060209.3:p.Arg311Ter
  • NP_060209.4:p.Arg311Ter
  • LRG_701t1:c.931C>T
  • LRG_701t2:c.931C>T
  • LRG_701:g.31432C>T
  • LRG_701p1:p.Arg311Ter
  • LRG_701p2:p.Arg311Ter
  • NC_000001.10:g.46659546G>A
  • NG_009205.2:g.31432C>T
  • NM_017739.3:c.931C>T
  • NP_060209.3:p.Arg311*
Protein change:
R168*
Links:
dbSNP: rs386834039
NCBI 1000 Genomes Browser:
rs386834039
Molecular consequence:
  • NM_001243766.2:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001290129.2:c.865C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001290130.2:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017739.4:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa 76 (RP76)
Identifiers:
MONDO: MONDO:0014929; MedGen: C4310704; OMIM: 617123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001132272Counsyl
no assertion criteria provided
Likely pathogenic
(Apr 2, 2015) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C.

Arch Neurol. 2006 Oct;63(10):1491-5.

PubMed [citation]
PMID:
17030669

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.

J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2.

PubMed [citation]
PMID:
22554691
PMCID:
PMC3405532

Details of each submission

From Counsyl, SCV001132272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2025