NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) AND Primary hyperoxaluria type 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000186491.10

Allele description [Variation Report for NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)]

NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)

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.973G>A (p.Gly325Ser)

HGVS:

NC_000010.11:g.97611648G>A
NG_027922.1:g.32304G>A
NM_001134670.2:c.484G>A
NM_138413.4:c.973G>AMANE SELECT
NP_001128142.1:p.Gly162Ser
NP_612422.2:p.Gly325Ser
NC_000010.10:g.99371405G>A
NM_138413.3:c.973G>A

Protein change:

G162S

Links:

dbSNP: rs777046879

NCBI 1000 Genomes Browser:

rs777046879

Molecular consequence:

NM_001134670.2:c.484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_138413.4:c.973G>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239853	Clinical Biochemistry Laboratory, Health Services Laboratory	no assertion criteria provided	Pathogenic (Nov 27, 2014)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239853

Clinical Biochemistry Laboratory, Health Services Laboratory

no assertion criteria provided

Pathogenic
(Nov 27, 2014)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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

Details of each submission

From Clinical Biochemistry Laboratory, Health Services Laboratory, SCV000239853.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

Prediction

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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