NM_000789.4(ACE):c.2186G>A (p.Arg729Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 11, 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:: RCV002647195.3

Allele description [Variation Report for NM_000789.4(ACE):c.2186G>A (p.Arg729Gln)]

NM_000789.4(ACE):c.2186G>A (p.Arg729Gln)

Gene:

ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q23.3

Genomic location:

Preferred name:

NM_000789.4(ACE):c.2186G>A (p.Arg729Gln)

HGVS:

NC_000017.11:g.63486684G>A
NG_011648.1:g.14612G>A
NG_137225.1:g.292G>A
NM_000789.4:c.2186G>AMANE SELECT
NM_001178057.2:c.464G>A
NM_001382700.1:c.1619G>A
NM_001382701.1:c.1334G>A
NM_001382702.1:c.116G>A
NM_152830.3:c.464G>A
NP_000780.1:p.Arg729Gln
NP_001171528.1:p.Arg155Gln
NP_001369629.1:p.Arg540Gln
NP_001369630.1:p.Arg445Gln
NP_001369631.1:p.Arg39Gln
NP_690043.1:p.Arg155Gln
NC_000017.10:g.61564045G>A
NR_168483.1:n.486G>A

Protein change:

R155Q

Molecular consequence:

NM_000789.4:c.2186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001178057.2:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382700.1:c.1619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382701.1:c.1334G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001382702.1:c.116G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_152830.3:c.464G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_168483.1:n.486G>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
SCV003512817	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 11, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32164334, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003512817

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 11, 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

Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.

Ahn YH, Lee C, Kim NKD, Park E, Kang HG, Ha IS, Park WY, Cheong HI.

J Clin Med. 2020 Mar 10;9(3). doi:pii: E751. 10.3390/jcm9030751.

PubMed [citation]

PMID:: 32164334
PMCID:: PMC7141392

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, SCV003512817.2

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

Description

This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 729 of the ACE protein (p.Arg729Gln). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This missense change has been observed in individual(s) with clinical features of ACE-related conditions (PMID: 32164334). This variant is present in population databases (rs201527082, gnomAD 0.03%).

#	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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