NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter) AND Hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000207466.2

Allele description [Variation Report for NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter)]

NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter)

Gene:
UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_032504.1(UNC80):c.3793C>T (p.Arg1265Ter)
HGVS:
  • NC_000002.12:g.209872917C>T
  • NG_051361.1:g.105993C>T
  • NM_032504.1:c.3793C>T
  • NM_182587.4:c.3778C>T
  • NP_115893.1:p.Arg1265Ter
  • NP_872393.3:p.Arg1260Ter
  • NC_000002.11:g.210737641C>T
Protein change:
R1260*; ARG1265TER
Links:
OMIM: 612636.0005; dbSNP: rs864321622
NCBI 1000 Genomes Browser:
rs864321622
Molecular consequence:
  • NM_032504.1:c.3793C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_182587.4:c.3778C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2)
Identifiers:
MONDO: MONDO:0014777; MedGen: C4225203; Orphanet: 371364; OMIM: 616801

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000262742OMIMno assertion criteria providedPathogenic
(Jan 7, 2016)
germlineliterature only

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

SCV001438906Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
Arabgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS.

Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17.

PubMed [citation]
PMID:
26708753
PMCID:
PMC4716667

Details of each submission

From OMIM, SCV000262742.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 children from 2 unrelated consanguineous Saudi Arabian families with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2; 616801), Shamseldin et al. (2016) identified a homozygous c.3793C-T transition (c.3793C-T, NM_032504.1) in the UNC80 gene, resulting in an arg1265-to-ter (R1265X) substitution. The mutation, which was found by a combination of autozygosity mapping and exome sequencing, was confirmed by Sanger sequencing and segregated with the disorder in the 2 families. It was not found in the ExAC database or in 650 Saudi Arabian control exomes. Functional studies of the variant and studies of patient cells were not performed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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