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NM_003361.4(UMOD):c.326T>A (p.Val109Glu) AND UMOD-related disorder

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003336129.1

Allele description [Variation Report for NM_003361.4(UMOD):c.326T>A (p.Val109Glu)]

NM_003361.4(UMOD):c.326T>A (p.Val109Glu)

Gene:
UMOD:uromodulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
HGVS:
  • NC_000016.10:g.20348975A>T
  • NG_008151.1:g.8741T>A
  • NM_001008389.2:c.326T>A
  • NM_001008389.3:c.326T>A
  • NM_001278614.2:c.425T>A
  • NM_001378232.1:c.326T>A
  • NM_001378233.1:c.326T>A
  • NM_001378234.1:c.326T>A
  • NM_001378235.1:c.326T>A
  • NM_001378237.1:c.326T>A
  • NM_003361.4:c.326T>AMANE SELECT
  • NP_001008390.1:p.Val109Glu
  • NP_001265543.1:p.Val142Glu
  • NP_001365161.1:p.Val109Glu
  • NP_001365162.1:p.Val109Glu
  • NP_001365163.1:p.Val109Glu
  • NP_001365164.1:p.Val109Glu
  • NP_001365166.1:p.Val109Glu
  • NP_003352.2:p.Val109Glu
  • NC_000016.9:g.20360297A>T
  • NM_003361.3:c.326T>A
  • NR_165456.1:n.551T>A
Protein change:
V109E
Links:
dbSNP: rs780462125
NCBI 1000 Genomes Browser:
rs780462125
Molecular consequence:
  • NM_001008389.3:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278614.2:c.425T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378232.1:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378233.1:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378234.1:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378235.1:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378237.1:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003361.4:c.326T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165456.1:n.551T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
UMOD-related disorder
Synonyms:
UMOD-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004046134Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV004046134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has been previously reported as a heterozygous change in patients with kidney disease (PMID: 23988501, 30586318, 33574344). Functional analysis showed that the c.326T>A (p.Val109Glu) variant alters the function of the UMOD protein (PMID: 23988501). The c.326T>A (p.Val109Glu) variant is present in the heterozygous state in the gnomAD population database at a frequency of 0.001% (3/215296) and thus is presumed to be rare. The c.326T>A (p.Val109Glu) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.326T>A (p.Val109Glu) variant is classified as Likely Pathogenic.

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

Last Updated: Jun 23, 2024