NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Oct 27, 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:: RCV001592993.6

Allele description [Variation Report for NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser)]

NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.13534G>A (p.Gly4512Ser)

HGVS:

NC_000008.11:g.143916287C>T
NG_012492.1:g.65459G>A
NM_000445.5:c.13615G>A
NM_201378.4:c.13492G>A
NM_201379.3:c.13468G>A
NM_201380.4:c.13945G>A
NM_201381.3:c.13438G>A
NM_201382.4:c.13534G>A
NM_201383.3:c.13546G>A
NM_201384.3:c.13534G>AMANE SELECT
NP_000436.2:p.Gly4539Ser
NP_958780.1:p.Gly4498Ser
NP_958781.1:p.Gly4490Ser
NP_958782.1:p.Gly4649Ser
NP_958783.1:p.Gly4480Ser
NP_958784.1:p.Gly4512Ser
NP_958785.1:p.Gly4516Ser
NP_958786.1:p.Gly4512Ser
NC_000008.10:g.144990455C>T
NM_000445.3:c.13615G>A
NM_000445.4:c.13615G>A

Protein change:

G4480S

Links:

dbSNP: rs782419427

NCBI 1000 Genomes Browser:

rs782419427

Molecular consequence:

NM_000445.5:c.13615G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.13492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.13468G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.13945G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.13438G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.13534G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.13546G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.13534G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001814399	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 6, 2020)	germline	clinical testing	Citation Link,
SCV003811099	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 27, 2021)	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

SCV001814399

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 6, 2020)

germline

clinical testing

Citation Link,

SCV003811099

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 27, 2021)

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	not provided	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, SCV001814399.1

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

#	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 Revvity Omics, Revvity, SCV003811099.2

#	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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