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NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) AND Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 27, 2017
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:
RCV001328181.1

Allele description [Variation Report for NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)]

NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)

Gene:
UMOD:uromodulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)
HGVS:
  • NC_000016.10:g.20348447G>T
  • NG_008151.1:g.9269C>A
  • NM_001008389.3:c.854C>A
  • NM_001278614.2:c.953C>A
  • NM_001378232.1:c.854C>A
  • NM_001378233.1:c.854C>A
  • NM_001378234.1:c.854C>A
  • NM_001378235.1:c.854C>A
  • NM_001378237.1:c.854C>A
  • NM_003361.4:c.854C>AMANE SELECT
  • NP_001008390.1:p.Ala285Glu
  • NP_001265543.1:p.Ala318Glu
  • NP_001365161.1:p.Ala285Glu
  • NP_001365162.1:p.Ala285Glu
  • NP_001365163.1:p.Ala285Glu
  • NP_001365164.1:p.Ala285Glu
  • NP_001365166.1:p.Ala285Glu
  • NP_003352.2:p.Ala285Glu
  • NC_000016.9:g.20359769G>T
  • NM_001008389.2:c.854C>A
  • NR_165456.1:n.1079C>A
Protein change:
A285E
Links:
dbSNP: rs766919534
NCBI 1000 Genomes Browser:
rs766919534
Molecular consequence:
  • NM_001008389.3:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278614.2:c.953C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378232.1:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378233.1:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378234.1:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378235.1:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378237.1:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003361.4:c.854C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165456.1:n.1079C>A - 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
SCV001449469Sydney Genome Diagnostics, Children's Hospital Westmead
no assertion criteria provided
Uncertain significance
(Oct 27, 2017) 		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, SCV001449469.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This individual is heterozygous for the variant c.854C>A p.(Ala285Glu) in the UMOD gene. The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). This variant has been previously reported in two related families with a total of 4 individuals with autosomal dominant tubulointerstitial kidney disease (Bollee et al Clin J Am Soc Nephrol 2011 6: 2429-2438; Ekici et al Kidney International 2014 86; 589-599). In silico analysis of pathogenicity (through Alamut Visual v2.8.1) using PolyPhen2, SIFT and MutationTaster suggest that this variant is likely to be pathogenic. However, this analysis alone cannot be used to confirm pathogenicity. This variant is considered to be a variant of uncertain significance (VOUS) according to the ACMG guidelines.

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

Last Updated: Sep 29, 2024