NM_000030.3(AGXT):c.221_227dup (p.Val77fs) AND Primary hyperoxaluria, type I

Clinical significance:Likely pathogenic (Last evaluated: Jan 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000186385.2

Allele description [Variation Report for NM_000030.3(AGXT):c.221_227dup (p.Val77fs)]

NM_000030.3(AGXT):c.221_227dup (p.Val77fs)

Gene:
AGXT:alanine--glyoxylate and serine--pyruvate aminotransferase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
HGVS:
  • NC_000002.12:g.240869225_240869231dup
  • NG_008005.1:g.5481_5487dup
  • NM_000030.3:c.221_227dupMANE SELECT
  • NP_000021.1:p.Val77fs
  • NC_000002.11:g.241808642_241808648dup
  • NM_000030.2:c.221_227dupTCACACT
  • NP_000021.1:p.Val77fs
  • NP_000021.1:p.Val77fs
Protein change:
V77fs
Links:
dbSNP: rs180177183
NCBI 1000 Genomes Browser:
rs180177183
Molecular consequence:
  • NM_000030.3:c.221_227dup - 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:
MedGen: C0268164; Orphanet: 416; Orphanet: 93598; OMIM: 259900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000239735Clinical Biochemistry Laboratory,Health Services Laboratoryno assertion criteria providedPathogenic
(Nov 27, 2014)
germlineresearch

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

Citation Link,

SCV000788567Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 24, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Identification of 5 novel mutations in the AGXT gene.

Basmaison O, Rolland MO, Cochat P, Bozon D.

Hum Mutat. 2000 Jun;15(6):577.

PubMed [citation]
PMID:
10862087

Details of each submission

From Clinical Biochemistry Laboratory,Health Services Laboratory, SCV000239735.1

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

From Counsyl, SCV000788567.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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