NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 20, 2023
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:: RCV003554881.2

Allele description [Variation Report for NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr)]

NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr)

Gene:

REN:renin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr)

HGVS:

NC_000001.11:g.204162021_204162023dup
NG_012122.1:g.9317_9319dup
NM_000537.4:c.241_243dupMANE SELECT
NP_000528.1:p.Tyr81_Met82insTyr
NC_000001.10:g.204131146_204131147insGTA
NC_000001.10:g.204131149_204131151dup

Molecular consequence:

NM_000537.4:c.241_243dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV004293881	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 20, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21036942, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004293881

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 20, 2023)

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

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.

Michaud A, Bur D, Gribouval O, Muller L, Iturrioz X, Clemessy M, Gasc JM, Gubler MC, Corvol P.

Hum Mol Genet. 2011 Jan 15;20(2):301-11. doi: 10.1093/hmg/ddq465. Epub 2010 Oct 29.

PubMed [citation]

PMID:: 21036942

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004293881.1

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

Description

This variant, c.241_243dup, results in the insertion of 1 amino acid(s) of the REN protein (p.Tyr81dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs753950998, gnomAD 0.01%). This variant has been observed in individual(s) with hyperuricemic nephropathy and/or renal tubular dysgenesis (PMID: 21036942; Invitae). This variant is also known as Y15dup . Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects REN function (PMID: 21036942). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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