NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jun 21, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000727696.9

Allele description [Variation Report for NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)]

NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.3460C>T (p.Arg1154Trp)

HGVS:

NC_000008.11:g.143927706G>A
NG_012492.1:g.54040C>T
NM_000445.5:c.3541C>T
NM_201378.4:c.3418C>T
NM_201379.3:c.3394C>T
NM_201380.4:c.3871C>T
NM_201381.3:c.3364C>T
NM_201382.4:c.3460C>T
NM_201383.3:c.3472C>T
NM_201384.3:c.3460C>TMANE SELECT
NP_000436.2:p.Arg1181Trp
NP_958780.1:p.Arg1140Trp
NP_958781.1:p.Arg1132Trp
NP_958782.1:p.Arg1291Trp
NP_958783.1:p.Arg1122Trp
NP_958784.1:p.Arg1154Trp
NP_958785.1:p.Arg1158Trp
NP_958786.1:p.Arg1154Trp
NC_000008.10:g.145001874G>A
NM_000445.3:c.3541C>T
NM_000445.4:c.3541C>T

Protein change:

R1122W

Links:

dbSNP: rs782544250

NCBI 1000 Genomes Browser:

rs782544250

Molecular consequence:

NM_000445.5:c.3541C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.3418C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.3394C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.3871C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.3364C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.3460C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.3472C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.3460C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000514167	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 21, 2021)	germline	clinical testing	Citation Link,
SCV000855040	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Nov 14, 2017)	germline	clinical testing	Citation Link,
SCV003817374	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 11, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000514167

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 21, 2021)

germline

clinical testing

Citation Link,

SCV000855040

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Nov 14, 2017)

germline

clinical testing

Citation Link,

SCV003817374

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 11, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000514167.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000855040.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	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		3	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003817374.2

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

#	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: Mar 16, 2024

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