NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) AND Primary hyperoxaluria, type I

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 25, 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:: RCV001833537.1

Allele description [Variation Report for NM_000030.3(AGXT):c.28C>G (p.Pro10Ala)]

NM_000030.3(AGXT):c.28C>G (p.Pro10Ala)

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.28C>G (p.Pro10Ala)

HGVS:

NC_000002.12:g.240868893C>G
NG_008005.1:g.5149C>G
NM_000030.3:c.28C>GMANE SELECT
NP_000021.1:p.Pro10Ala
NC_000002.11:g.241808310C>G
NM_000030.2:c.28C>G

Protein change:

P10A

Links:

dbSNP: rs180177191

NCBI 1000 Genomes Browser:

rs180177191

Molecular consequence:

NM_000030.3:c.28C>G - missense variant - [Sequence Ontology: SO:0001583]

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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RecName: Full=F-box-like/WD repeat-containing protein TBL1X; AltName: Full=SMAP5...
RecName: Full=F-box-like/WD repeat-containing protein TBL1X; AltName: Full=SMAP55; AltName: Full=Transducin beta-like protein 1X; AltName: Full=Transducin-beta-like protein 1, X-linked
gi|226693612|sp|O60907.3|TBL1X_HUMA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002076449	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 25, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002076449

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 25, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002076449.1

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

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

Last Updated: Apr 23, 2022

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