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NM_012203.2(GRHPR):c.812C>T (p.Thr271Met) AND Nephrolithiasis/nephrocalcinosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2022
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:
RCV002418226.2

Allele description [Variation Report for NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)]

NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)

Gene:
GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.2
Genomic location:
Preferred name:
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)
HGVS:
  • NC_000009.12:g.37432085C>T
  • NG_008135.1:g.14376C>T
  • NM_012203.2:c.812C>TMANE SELECT
  • NP_036335.1:p.Thr271Met
  • NC_000009.11:g.37432082C>T
  • NM_012203.1:c.812C>T
Protein change:
T271M
Links:
dbSNP: rs750954346
NCBI 1000 Genomes Browser:
rs750954346
Molecular consequence:
  • NM_012203.2:c.812C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrolithiasis/nephrocalcinosis
Identifiers:
MedGen: CN580796

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002678948Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002678948.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.T271M variant (also known as c.812C>T), located in coding exon 8 of the GRHPR gene, results from a C to T substitution at nucleotide position 812. The threonine at codon 271 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024