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NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2023
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:
RCV003480705.1

Allele description [Variation Report for NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)]

NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)

Gene:
ALG8:ALG8 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q14.1
Genomic location:
Preferred name:
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)
Other names:
p.Arg179*
HGVS:
  • NC_000011.10:g.78119193G>A
  • NG_008926.1:g.25461C>T
  • NM_001007027.3:c.535C>T
  • NM_024079.4:c.[535C>T]
  • NM_024079.5:c.535C>TMANE SELECT
  • NP_001007028.1:p.Arg179Ter
  • NP_076984.2:p.Arg179Ter
  • NC_000011.9:g.77830239G>A
  • NM_024079.4:c.535C>T
  • NM_024079.4:c.[535C>T]
  • NM_024079.5:c.535C>T
Protein change:
R179*; ARG179TER
Links:
OMIM: 608103.0009; dbSNP: rs762811727
NCBI 1000 Genomes Browser:
rs762811727
Molecular consequence:
  • NM_001007027.3:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024079.5:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004226853Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 18, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.

J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. Erratum in: J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729.

PubMed [citation]
PMID:
28375157
PMCID:
PMC5409105

Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.

Apple B, Sartori G, Moore B, Chintam K, Singh G, Anand PM, Strande NT, Mirshahi T, Triffo W, Chang AR.

Kidney Int. 2023 Mar;103(3):607-615. doi: 10.1016/j.kint.2022.11.025. Epub 2022 Dec 24.

PubMed [citation]
PMID:
36574950
PMCID:
PMC10012037
See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226853.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

PP2, PVS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024