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NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2020
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:
RCV002334845.2

Allele description [Variation Report for NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys)]

NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.458A>G (p.Tyr153Cys)
HGVS:
  • NC_000017.11:g.15230942T>C
  • NG_007949.1:g.39386A>G
  • NM_000304.4:c.458A>GMANE SELECT
  • NM_001281455.2:c.458A>G
  • NM_001281456.2:c.458A>G
  • NM_153321.3:c.458A>G
  • NM_153322.3:c.458A>G
  • NP_000295.1:p.Tyr153Cys
  • NP_001268384.1:p.Tyr153Cys
  • NP_001268385.1:p.Tyr153Cys
  • NP_696996.1:p.Tyr153Cys
  • NP_696997.1:p.Tyr153Cys
  • LRG_263t1:c.458A>G
  • LRG_263:g.39386A>G
  • NC_000017.10:g.15134259T>C
  • NM_000304.2:c.458A>G
  • NR_104017.2:n.553A>G
  • NR_104018.2:n.453A>G
Protein change:
Y153C
Links:
dbSNP: rs761138676
NCBI 1000 Genomes Browser:
rs761138676
Molecular consequence:
  • NM_000304.4:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.458A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.553A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.453A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002637048Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 3, 2020) 		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, SCV002637048.2

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

Description

The p.Y153C variant (also known as c.458A>G), located in coding exon 4 of the PMP22 gene, results from an A to G substitution at nucleotide position 458. The tyrosine at codon 153 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024