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NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 25, 2018
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:
RCV000579372.3

Allele description [Variation Report for NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)]

NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)

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.2371C>T (p.Arg791Ter)
HGVS:
  • NC_000017.11:g.63488713C>T
  • NG_011648.1:g.16641C>T
  • NM_000789.4:c.2371C>TMANE SELECT
  • NM_001178057.2:c.649C>T
  • NM_152830.3:c.649C>T
  • NP_000780.1:p.Arg791Ter
  • NP_001171528.1:p.Arg217Ter
  • NP_690043.1:p.Arg217Ter
  • NC_000017.10:g.61566074C>T
  • NM_000789.3:c.2371C>T
Protein change:
R217*; ARG791TER
Links:
OMIM: 106180.0006; dbSNP: rs397514689
NCBI 1000 Genomes Browser:
rs397514689
Molecular consequence:
  • NM_000789.4:c.2371C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001178057.2:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152830.3:c.649C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000680495GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 25, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000680495.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R791X pathogenic variant in the ACE gene has been reported previously in the homozygous state in association with renal tubular dysgenesis (Gribouval et al., 2012).This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Functional studies of the R791X mutation (aka R762X using alternate nomenclature) indicate that although it exhibits N-domain enzyme activity, it lacks the C-domain activity and is not properly inserted in the plasma membrane (Michaud et al., 2014). The R791X mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R791X as a pathogenic variant. This variant has been seen Paternally inherited.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024