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NM_001371986.1(UNC80):c.565G>A (p.Val189Met) AND Encephalopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 30, 2015
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:
RCV000203565.2

Allele description [Variation Report for NM_001371986.1(UNC80):c.565G>A (p.Val189Met)]

NM_001371986.1(UNC80):c.565G>A (p.Val189Met)

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_001371986.1(UNC80):c.565G>A (p.Val189Met)
HGVS:
  • NC_000002.12:g.209777524G>A
  • NG_051361.1:g.10600G>A
  • NM_001371986.1:c.565G>AMANE SELECT
  • NM_032504.2:c.565G>A
  • NM_182587.4:c.565G>A
  • NP_001358915.1:p.Val189Met
  • NP_115893.1:p.Val189Met
  • NP_115893.1:p.Val189Met
  • NP_872393.3:p.Val189Met
  • NC_000002.11:g.210642248G>A
  • NM_032504.1:c.565G>A
  • Q8N2C7:p.Val189Met
Protein change:
V189M; VAL189MET
Links:
UniProtKB: Q8N2C7#VAR_075874; OMIM: 612636.0007; dbSNP: rs864321623
NCBI 1000 Genomes Browser:
rs864321623
Molecular consequence:
  • NM_001371986.1:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032504.2:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_182587.4:c.565G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Encephalopathy
Synonyms:
Unspecified encephalopathy
Identifiers:
MedGen: C0085584; Human Phenotype Ontology: HP:0001298

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258548Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(Aug 30, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

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 Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre, SCV000258548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2023