NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) AND Primary hyperoxaluria, type I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 2, 2020
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:: RCV001280544.1

Allele description [Variation Report for NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)]

NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)

HGVS:

NC_000002.12:g.240872988C>G
NG_008005.1:g.9244C>G
NM_000030.3:c.534C>GMANE SELECT
NP_000021.1:p.Cys178Trp
NC_000002.11:g.241812405C>G
NM_000030.2:c.534C>G

Protein change:

C178W

Links:

dbSNP: rs1400552764

NCBI 1000 Genomes Browser:

rs1400552764

Molecular consequence:

NM_000030.3:c.534C>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

function_uncertain_variant [Sequence Ontology: SO:0002220]

Observations:

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
SCV001370514	Molecular Medicine Center, Medical University of Sofia	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 2, 2020)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001370514

Molecular Medicine Center, Medical University of Sofia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 2, 2020)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Bulgarian	maternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Molecular Medicine Center, Medical University of Sofia, SCV001370514.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Bulgarian	1	not provided	not provided	clinical testing	not provided

Description

A female infant with chronic kidney disease and preliminary diagnosis infantile nephronophthisis.

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

Last Updated: Apr 23, 2022

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