NM_003041.4(SLC5A2):c.1376T>C (p.Val459Ala) AND Familial renal glucosuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 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:
RCV004555296.2

Allele description [Variation Report for NM_003041.4(SLC5A2):c.1376T>C (p.Val459Ala)]

NM_003041.4(SLC5A2):c.1376T>C (p.Val459Ala)

Gene:
SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_003041.4(SLC5A2):c.1376T>C (p.Val459Ala)
HGVS:
  • NC_000016.10:g.31488975T>C
  • NG_012892.1:g.10858T>C
  • NG_033149.1:g.24445A>G
  • NG_133665.1:g.188T>C
  • NM_003041.4:c.1376T>CMANE SELECT
  • NP_003032.1:p.Val459Ala
  • NC_000016.9:g.31500296T>C
Protein change:
V459A
Molecular consequence:
  • NM_003041.4:c.1376T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005044269MVZ Medizinische Genetik Mainz
criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)		Uncertain significance
(Jun 21, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From MVZ Medizinische Genetik Mainz, SCV005044269.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

ACMG Criteria: PM2_SUP, PP3, PP4 (ACMG Version 4); Compound Heterozygote

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2024