NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Oct 20, 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:: RCV000712724.12

Allele description [Variation Report for NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)]

NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)

HGVS:

NC_000008.11:g.143916371C>T
NG_012492.1:g.65375G>A
NM_000445.5:c.13531G>A
NM_201378.4:c.13408G>A
NM_201379.3:c.13384G>A
NM_201380.4:c.13861G>A
NM_201381.3:c.13354G>A
NM_201382.4:c.13450G>A
NM_201383.3:c.13462G>A
NM_201384.3:c.13450G>AMANE SELECT
NP_000436.2:p.Gly4511Ser
NP_958780.1:p.Gly4470Ser
NP_958781.1:p.Gly4462Ser
NP_958782.1:p.Gly4621Ser
NP_958783.1:p.Gly4452Ser
NP_958784.1:p.Gly4484Ser
NP_958785.1:p.Gly4488Ser
NP_958786.1:p.Gly4484Ser
NC_000008.10:g.144990539C>T
NM_000445.3:c.13531G>A
NM_000445.4:c.13531G>A

Protein change:

G4452S

Links:

dbSNP: rs782650176

NCBI 1000 Genomes Browser:

rs782650176

Molecular consequence:

NM_000445.5:c.13531G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.13408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.13384G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.13861G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.13354G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.13450G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.13462G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.13450G>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
SCV000335239	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Sep 9, 2015)	germline	clinical testing	Citation Link,
SCV000843246	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Sep 5, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003816700	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 20, 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

SCV000335239

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Sep 9, 2015)

germline

clinical testing

Citation Link,

SCV000843246

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Sep 5, 2017)

germline

clinical testing

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

SCV003816700

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 20, 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	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

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), SCV000335239.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	not provided	not provided

From Athena Diagnostics, SCV000843246.1

#	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

From Revvity Omics, Revvity, SCV003816700.2

#	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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