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NM_016147.3(PPME1):c.47G>T (p.Arg16Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 16, 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:
RCV004507227.1

Allele description [Variation Report for NM_016147.3(PPME1):c.47G>T (p.Arg16Leu)]

NM_016147.3(PPME1):c.47G>T (p.Arg16Leu)

Gene:
PPME1:protein phosphatase methylesterase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_016147.3(PPME1):c.47G>T (p.Arg16Leu)
HGVS:
  • NC_000011.10:g.74171468G>T
  • NG_041791.1:g.4552C>A
  • NG_123518.2:g.1332G>T
  • NM_001271593.2:c.47G>T
  • NM_016147.3:c.47G>TMANE SELECT
  • NP_001258522.1:p.Arg16Leu
  • NP_057231.1:p.Arg16Leu
  • NC_000011.9:g.73882513G>T
  • NM_016147.1:c.47G>T
Protein change:
R16L
Molecular consequence:
  • NM_001271593.2:c.47G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016147.3:c.47G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005009557Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 16, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005009557.1

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

Description

The c.47G>T (p.R16L) alteration is located in exon 1 (coding exon 1) of the PPME1 gene. This alteration results from a G to T substitution at nucleotide position 47, causing the arginine (R) at amino acid position 16 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024