NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jun 22, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000842612.5

Allele description [Variation Report for NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)]

NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)

Genes:

LOC130001334:ATAC-STARR-seq lymphoblastoid silent region 19628 [Gene]
PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.1246G>A (p.Asp416Asn)

HGVS:

NC_000008.11:g.143934015C>T
NG_012492.1:g.47731G>A
NM_000445.5:c.1327G>A
NM_201378.4:c.1204G>A
NM_201379.3:c.1180G>A
NM_201380.4:c.1657G>A
NM_201381.3:c.1150G>A
NM_201382.4:c.1246G>A
NM_201383.3:c.1258G>A
NM_201384.3:c.1246G>AMANE SELECT
NP_000436.2:p.Asp443Asn
NP_958780.1:p.Asp402Asn
NP_958781.1:p.Asp394Asn
NP_958782.1:p.Asp553Asn
NP_958783.1:p.Asp384Asn
NP_958784.1:p.Asp416Asn
NP_958785.1:p.Asp420Asn
NP_958786.1:p.Asp416Asn
NC_000008.10:g.145008183C>T
NM_000445.3:c.1327G>A

Protein change:

D384N

Links:

dbSNP: rs782674838

NCBI 1000 Genomes Browser:

rs782674838

Molecular consequence:

NM_000445.5:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.1246G>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
SCV000984641	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (Apr 27, 2018)	germline	clinical testing	Citation Link,
SCV003817247	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 22, 2023)	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

SCV000984641

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(Apr 27, 2018)

germline

clinical testing

Citation Link,

SCV003817247

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 22, 2023)

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, SCV000984641.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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, SCV003817247.2

#	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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