NM_003041.4(SLC5A2):c.500del (p.Gln167fs) AND Familial renal glucosuria

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2004)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013769.19

Allele description [Variation Report for NM_003041.4(SLC5A2):c.500del (p.Gln167fs)]

NM_003041.4(SLC5A2):c.500del (p.Gln167fs)

Gene:
SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)
HGVS:
  • NC_000016.10:g.31486201del
  • NG_012892.1:g.8084del
  • NM_003041.4:c.500delMANE SELECT
  • NP_003032.1:p.Gln167fs
  • NC_000016.9:g.31497522del
  • NR_130783.2:n.514del
Protein change:
Q167fs
Links:
OMIM: 182381.0003; dbSNP: rs267607067
NCBI 1000 Genomes Browser:
rs267607067
Molecular consequence:
  • NM_003041.4:c.500del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_130783.2:n.514del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial renal glucosuria (GLYS)
Synonyms:
RENAL GLUCOSURIA, AUTOSOMAL DOMINANT; Familial renal glycosuria
Identifiers:
MONDO: MONDO:0009297; MedGen: C3245525; Orphanet: 69076; OMIM: 233100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034016OMIMno assertion criteria providedPathogenic
(Feb 1, 2004)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.

Calado J, Soto K, Clemente C, Correia P, Rueff J.

Hum Genet. 2004 Feb;114(3):314-6. Epub 2003 Nov 12.

PubMed [citation]
PMID:
14614622

Details of each submission

From OMIM, SCV000034016.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp deletion in the SLC5A2 gene (500delA) that was found in compound heterozygous state in a patient with renal glucosuria (GLYS; 231000) by Calado et al. (2004), see 182381.0002.

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

Last Updated: Oct 16, 2021

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