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NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys) AND Primary hyperoxaluria type 3

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 27, 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:
RCV003447368.1

Allele description [Variation Report for NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)]

NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)

Gene:
HOGA1:4-hydroxy-2-oxoglutarate aldolase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.2
Genomic location:
Preferred name:
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)
HGVS:
  • NC_000010.11:g.97611519C>T
  • NG_027922.1:g.32175C>T
  • NM_001134670.2:c.355C>T
  • NM_138413.4:c.844C>TMANE SELECT
  • NP_001128142.1:p.Arg119Cys
  • NP_612422.2:p.Arg282Cys
  • NC_000010.10:g.99371276C>T
Protein change:
R119C
Molecular consequence:
  • NM_001134670.2:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138413.4:c.844C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary hyperoxaluria type 3
Synonyms:
PH III; Primary hyperoxaluria, type III
Identifiers:
MONDO: MONDO:0013327; MedGen: C3150878; Orphanet: 416; Orphanet: 93600; OMIM: 613616

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174311Clinical Biochemistry Laboratory, Health Services Laboratory
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 27, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.

Bar R, Ben-Shalom E, Duvdevani M, Belostotsky R, Pollak MR, Mount DB, Bar-Gal R, Gnessin E, Tzur S, Curhan GC, Frishberg Y.

J Urol. 2021 May;205(5):1394-1399. doi: 10.1097/JU.0000000000001528. Epub 2020 Dec 22.

PubMed [citation]
PMID:
33350326

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 Clinical Biochemistry Laboratory, Health Services Laboratory, SCV004174311.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

ACMG:PM1 PM2 PP3 PP4 BP1

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

Last Updated: Dec 17, 2023