NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 27, 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:: RCV002541644.3

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003461941	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 27, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21868615, 31068150, 32450155, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003461941

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 27, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B.

Clin J Am Soc Nephrol. 2011 Oct;6(10):2429-38. doi: 10.2215/CJN.01220211. Epub 2011 Aug 25.

PubMed [citation]

PMID:: 21868615
PMCID:: PMC3359549

UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.

Yang J, Zhang Y, Zhou J.

BMC Pediatr. 2019 May 8;19(1):145. doi: 10.1186/s12887-019-1522-7. Review.

PubMed [citation]

PMID:: 31068150
PMCID:: PMC6505284

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003461941.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on UMOD protein function. ClinVar contains an entry for this variant (Variation ID: 988177). This missense change has been observed in individual(s) with UMOD-related conditions (PMID: 21868615, 31068150, 32450155). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 285 of the UMOD protein (p.Ala285Glu).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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