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NM_003361.4(UMOD):c.1500A>G (p.Ala500=) AND Familial juvenile hyperuricemic nephropathy type 1

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jul 30, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002251353.12

Allele description [Variation Report for NM_003361.4(UMOD):c.1500A>G (p.Ala500=)]

NM_003361.4(UMOD):c.1500A>G (p.Ala500=)

Gene:
UMOD:uromodulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.3
Genomic location:
Preferred name:
NM_003361.4(UMOD):c.1500A>G (p.Ala500=)
HGVS:
  • NC_000016.10:g.20341168T>C
  • NG_008151.1:g.16548A>G
  • NM_001008389.3:c.1500A>G
  • NM_001278614.2:c.1599A>G
  • NM_001378232.1:c.1500A>G
  • NM_001378233.1:c.1500A>G
  • NM_001378234.1:c.1641A>G
  • NM_001378235.1:c.1641A>G
  • NM_003361.4:c.1500A>GMANE SELECT
  • NP_001008390.1:p.Ala500=
  • NP_001265543.1:p.Ala533=
  • NP_001365161.1:p.Ala500=
  • NP_001365162.1:p.Ala500=
  • NP_001365163.1:p.Ala547=
  • NP_001365164.1:p.Ala547=
  • NP_003352.2:p.Ala500=
  • NP_003352.2:p.Ala500=
  • NC_000016.9:g.20352490T>C
  • NM_003361.3:c.1500A>G
  • NR_165456.1:n.1723A>G
Links:
dbSNP: rs200895986
NCBI 1000 Genomes Browser:
rs200895986
Molecular consequence:
  • NR_165456.1:n.1723A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001008389.3:c.1500A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001278614.2:c.1599A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378232.1:c.1500A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378233.1:c.1500A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378234.1:c.1641A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378235.1:c.1641A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003361.4:c.1500A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Familial juvenile hyperuricemic nephropathy type 1 (ADTKD1)
Synonyms:
Medullary cystic kidney disease 2, autosomal dominant; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008073; MedGen: C4551496; Orphanet: 209886; Orphanet: 34149; OMIM: 162000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000395523Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002806534Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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 Illumina Laboratory Services, Illumina, SCV000395523.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002806534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024