NM_000030.3(AGXT):c.642_645del (p.Pro215fs) AND Primary hyperoxaluria, type I

This record was updated by the submitter. Please see the current version.

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:: RCV000186400.1

Allele description

NM_000030.3(AGXT):c.642_645del (p.Pro215fs)

Gene:

AGXT:alanine--glyoxylate and serine--pyruvate aminotransferase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_000030.3(AGXT):c.642_645del (p.Pro215fs)

HGVS:

NC_000002.12:g.240874024_240874027del
NG_008005.1:g.10280_10283del
NM_000030.3:c.642_645delMANE SELECT
NP_000021.1:p.Pro215fs
NC_000002.11:g.241813441_241813444del
NM_000030.2:c.642_645delTCCA
NP_000021.1:p.Pro215fs

Protein change:

P215fs

Links:

dbSNP: rs180177251

NCBI 1000 Genomes Browser:

rs180177251

Molecular consequence:

NM_000030.3:c.642_645del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000239750	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] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000239750

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]

Citation Link

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

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, SCV000239750.1

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

#	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: Jun 18, 2022

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