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NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp) AND Primary hyperoxaluria type 3

Germline classification:
Uncertain significance (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:
RCV003445242.1

Allele description [Variation Report for NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)]

NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)

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.599G>A (p.Gly200Asp)
HGVS:
  • NC_000010.11:g.97599810G>A
  • NG_027922.1:g.20466G>A
  • NM_001134670.2:c.212-2047G>A
  • NM_138413.4:c.599G>AMANE SELECT
  • NP_612422.2:p.Gly200Asp
  • NC_000010.10:g.99359567G>A
Protein change:
G200D
Molecular consequence:
  • NM_001134670.2:c.212-2047G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_138413.4:c.599G>A - 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
SCV004171736Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 27, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Hopp K, Cogal AG, Bergstralh EJ, Seide BM, Olson JB, Meek AM, Lieske JC, Milliner DS, Harris PC; Rare Kidney Stone Consortium..

J Am Soc Nephrol. 2015 Oct;26(10):2559-70. doi: 10.1681/ASN.2014070698. Epub 2015 Feb 2.

PubMed [citation]
PMID:
25644115
PMCID:
PMC4587693

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 Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic, SCV004171736.1

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

Description

ACMG:PP3 BP1

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

Last Updated: Dec 9, 2023