NM_000537.4(REN):c.1160G>A (p.Arg387Gln) AND Familial juvenile hyperuricemic nephropathy type 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 29, 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:: RCV003150842.1

Allele description [Variation Report for NM_000537.4(REN):c.1160G>A (p.Arg387Gln)]

NM_000537.4(REN):c.1160G>A (p.Arg387Gln)

Gene:

REN:renin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_000537.4(REN):c.1160G>A (p.Arg387Gln)

HGVS:

NC_000001.11:g.204155077C>T
NG_012122.1:g.16261G>A
NM_000537.3:c.1160G>A
NM_000537.4:c.1160G>AMANE SELECT
NP_000528.1:p.Arg387Gln
NC_000001.10:g.204124205C>T

Protein change:

R387Q

Molecular consequence:

NM_000537.4:c.1160G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial juvenile hyperuricemic nephropathy type 2 (ADTKD4)
Synonyms:: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
Identifiers:: MONDO: MONDO:0013128; MedGen: C2751310; Orphanet: 217330; OMIM: 613092

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003839124	Johns Hopkins Genomics, Johns Hopkins University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 29, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21473025, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003839124

Johns Hopkins Genomics, Johns Hopkins University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 29, 2022)

germline

clinical testing

PubMed (2)
[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

Autosomal Dominant Tubulointerstitial Kidney Disease – REN.

Živná M, Kidd K, Kmoch S, Bleyer AJ.

2011 Apr 5 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 21473025

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 Johns Hopkins Genomics, Johns Hopkins University, SCV003839124.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This REN missense variant (rs371478505) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 13/280654 total alleles; 0.0046%; no homozygotes), and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, and the arginine residue at this position is evolutionarily conserved across many of the species assessed. We consider the clinical significance of c.1160G>A; p.Arg387Gln in REN to be uncertain at this time.

#	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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