NM_000304.4(PMP22):c.215C>G (p.Ser72Trp) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Mar 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001580546.3

Allele description [Variation Report for NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)]

NM_000304.4(PMP22):c.215C>G (p.Ser72Trp)

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.215C>G (p.Ser72Trp)
HGVS:
  • NC_000017.11:g.15239575G>C
  • NG_007949.1:g.30753C>G
  • NM_000304.4:c.215C>GMANE SELECT
  • NM_001281455.2:c.215C>G
  • NM_001281456.2:c.215C>G
  • NM_001330143.2:c.215C>G
  • NM_153321.3:c.215C>G
  • NM_153322.3:c.215C>G
  • NP_000295.1:p.Ser72Trp
  • NP_001268384.1:p.Ser72Trp
  • NP_001268385.1:p.Ser72Trp
  • NP_001317072.1:p.Ser72Trp
  • NP_696996.1:p.Ser72Trp
  • NP_696997.1:p.Ser72Trp
  • LRG_263t1:c.215C>G
  • LRG_263:g.30753C>G
  • NC_000017.10:g.15142892G>C
  • NM_000304.2:c.215C>G
  • NM_000304.3:c.215C>G
  • NR_104017.2:n.310C>G
  • NR_104018.2:n.210C>G
Protein change:
S72W
Links:
dbSNP: rs104894621
NCBI 1000 Genomes Browser:
rs104894621
Molecular consequence:
  • NM_000304.4:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.310C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.210C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001817890GeneDxcriteria provided, single submitter
Likely pathogenic
(Mar 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001817890.1

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

Description

Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported previously in a mother and son with Dejerine-Sottas disease (Tyson et al., 1997).; This variant is associated with the following publications: (PMID: 28374912, 23224996, 9055797)

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

Last Updated: Nov 27, 2021

Support Center