NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jun 17, 2019
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:: RCV000734363.7

Allele description [Variation Report for NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln)]

NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.11000G>A (p.Arg3667Gln)

HGVS:

NC_000008.11:g.143918821C>T
NG_012492.1:g.62925G>A
NM_000445.5:c.11081G>A
NM_201378.4:c.10958G>A
NM_201379.3:c.10934G>A
NM_201380.4:c.11411G>A
NM_201381.3:c.10904G>A
NM_201382.4:c.11000G>A
NM_201383.3:c.11012G>A
NM_201384.3:c.11000G>AMANE SELECT
NP_000436.2:p.Arg3694Gln
NP_958780.1:p.Arg3653Gln
NP_958781.1:p.Arg3645Gln
NP_958782.1:p.Arg3804Gln
NP_958783.1:p.Arg3635Gln
NP_958784.1:p.Arg3667Gln
NP_958785.1:p.Arg3671Gln
NP_958786.1:p.Arg3667Gln
NC_000008.10:g.144992989C>T
NM_000445.3:c.11081G>A

Protein change:

R3635Q

Links:

dbSNP: rs369798520

NCBI 1000 Genomes Browser:

rs369798520

Molecular consequence:

NM_000445.5:c.11081G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.10958G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.10934G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.11411G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.10904G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.11000G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.11012G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.11000G>A - 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
SCV000862496	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 19, 2018)	germline	clinical testing	Citation Link,
SCV003816680	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 17, 2019)	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

SCV000862496

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jul 19, 2018)

germline

clinical testing

Citation Link,

SCV003816680

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 17, 2019)

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	unknown	1	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 Eurofins Ntd Llc (ga), SCV000862496.1

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

From Revvity Omics, Revvity, SCV003816680.2

#	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: Sep 29, 2024

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