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NM_003361.4(UMOD):c.698G>T (p.Gly233Val) AND Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2018
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:
RCV001328179.1

Allele description [Variation Report for NM_003361.4(UMOD):c.698G>T (p.Gly233Val)]

NM_003361.4(UMOD):c.698G>T (p.Gly233Val)

Gene:
UMOD:uromodulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_003361.4(UMOD):c.698G>T (p.Gly233Val)
HGVS:
  • NC_000016.10:g.20348603C>A
  • NG_008151.1:g.9113G>T
  • NM_001008389.3:c.698G>T
  • NM_001278614.2:c.797G>T
  • NM_001378232.1:c.698G>T
  • NM_001378233.1:c.698G>T
  • NM_001378234.1:c.698G>T
  • NM_001378235.1:c.698G>T
  • NM_001378237.1:c.698G>T
  • NM_003361.4:c.698G>TMANE SELECT
  • NP_001008390.1:p.Gly233Val
  • NP_001265543.1:p.Gly266Val
  • NP_001365161.1:p.Gly233Val
  • NP_001365162.1:p.Gly233Val
  • NP_001365163.1:p.Gly233Val
  • NP_001365164.1:p.Gly233Val
  • NP_001365166.1:p.Gly233Val
  • NP_003352.2:p.Gly233Val
  • NC_000016.9:g.20359925C>A
  • NM_001008389.2:c.698G>T
  • NR_165456.1:n.923G>T
Protein change:
G233V
Links:
dbSNP: rs1965720354
NCBI 1000 Genomes Browser:
rs1965720354
Molecular consequence:
  • NM_001008389.3:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278614.2:c.797G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378232.1:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378233.1:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378234.1:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378235.1:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378237.1:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003361.4:c.698G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165456.1:n.923G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Identifiers:
MONDO: MONDO:0008264; MedGen: C4511620; Orphanet: 34149

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449467Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(May 3, 2018) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sydney Genome Diagnostics, Children's Hospital Westmead, SCV001449467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This patient is heterozygous for a variant c.698G>T (p.Gly233Val) in the UMOD gene. To our knowledge, this variant has not been reported in any population databases (i.e. ExAC, ESP or dbSNP), and also has not been previously reported in the literature or any disease specific databases. In silico analysis (Alamut Visual v2.8.1) is inconclusive regarding this variant, SIFT predicts it to be likely benign whereas PolyPhen2 and MutationTaster predicts it to be likely pathogenic. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines.

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

Last Updated: Sep 1, 2024