U.S. flag

An official website of the United States government

NM_000030.3(AGXT):c.1170G>A (p.Lys390=) AND Primary hyperoxaluria, type I

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 9, 2021
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:
RCV001832563.1

Allele description [Variation Report for NM_000030.3(AGXT):c.1170G>A (p.Lys390=)]

NM_000030.3(AGXT):c.1170G>A (p.Lys390=)

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.1170G>A (p.Lys390=)
HGVS:
  • NC_000002.12:g.240878812G>A
  • NG_008005.1:g.15068G>A
  • NM_000030.3:c.1170G>AMANE SELECT
  • NP_000021.1:p.Lys390=
  • NC_000002.11:g.241818229G>A
Links:
dbSNP: rs899277137
NCBI 1000 Genomes Browser:
rs899277137
Molecular consequence:
  • NM_000030.3:c.1170G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002076485Natera, Inc.
no assertion criteria provided
Likely benign
(Aug 9, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002076485.1

#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: Feb 20, 2024