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

Recent activity

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PREDICTED: Rattus norvegicus protein kinase cAMP-dependent type I regulatory sub...
PREDICTED: Rattus norvegicus protein kinase cAMP-dependent type I regulatory subunit beta (Prkar1b), transcript variant X4, mRNA
gi|2678887168|ref|XM_039089118.2|

Nucleotide
Rattus norvegicus TL0AEA68YK14 mRNA sequence
Rattus norvegicus TL0AEA68YK14 mRNA sequence
gi|298902200|emb|FQ231663.1|

Nucleotide
Homo sapiens 211000035836695 genomic scaffold, whole genome shotgun sequence
Homo sapiens 211000035836695 genomic scaffold, whole genome shotgun sequence
gi|71518097|gb|CH471061.1||gnl|WGS: 211000035836695

Nucleotide
Homo sapiens transforming growth factor, beta 3 (TGFB3) gene, complete cds
Homo sapiens transforming growth factor, beta 3 (TGFB3) gene, complete cds
gi|27501939|gb|AY208161.1|

Nucleotide
Eno1l1 enolase 1 like 1 [Rattus norvegicus]
Eno1l1 enolase 1 like 1 [Rattus norvegicus]
Gene ID:108351291

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000395523	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf, Citation Link,
SCV002806534	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 30, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000395523

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002806534

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 30, 2021)

unknown

clinical testing

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

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From Fulgent Genetics, Fulgent Genetics, SCV002806534.1

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

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

Last Updated: Aug 25, 2024

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