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NM_000030.3(AGXT):c.27C>A (p.Thr9=) AND Primary hyperoxaluria, type I

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Sep 16, 2020
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:
RCV000186219.6

Allele description [Variation Report for NM_000030.3(AGXT):c.27C>A (p.Thr9=)]

NM_000030.3(AGXT):c.27C>A (p.Thr9=)

Gene:
AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
HGVS:
  • NC_000002.12:g.240868892C>A
  • NG_008005.1:g.5148C>A
  • NM_000030.3:c.27C>AMANE SELECT
  • NP_000021.1:p.Thr9=
  • NC_000002.11:g.241808309C>A
  • NM_000030.2:c.27C>A
  • NP_000021.1:p.Thr9Thr
Links:
dbSNP: rs180177188
NCBI 1000 Genomes Browser:
rs180177188
Molecular consequence:
  • NM_000030.3:c.27C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Primary hyperoxaluria, type I (HP1)
Synonyms:
OXALOSIS I; Primary hyperoxaluria type 1; Oxalosis 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009823; MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239542Clinical Biochemistry Laboratory, Health Services Laboratory
no assertion criteria provided
Uncertain significance
(Nov 27, 2014) 		germlineresearch

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

Citation Link,

SCV001456045Natera, Inc.
no assertion criteria provided
Likely benign
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.

Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review.

PubMed [citation]
PMID:
19479957

Details of each submission

From Clinical Biochemistry Laboratory, Health Services Laboratory, SCV000239542.1

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

From Natera, Inc., SCV001456045.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024