NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Mar 11, 2016
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:: RCV000177683.11

Allele description [Variation Report for NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)]

NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met)

HGVS:

NC_000008.11:g.143918101G>A
NG_012492.1:g.63645C>T
NM_000445.5:c.11801C>T
NM_201378.4:c.11678C>T
NM_201379.3:c.11654C>T
NM_201380.4:c.12131C>T
NM_201381.3:c.11624C>T
NM_201382.4:c.11720C>T
NM_201383.3:c.11732C>T
NM_201384.3:c.11720C>TMANE SELECT
NP_000436.2:p.Thr3934Met
NP_958780.1:p.Thr3893Met
NP_958781.1:p.Thr3885Met
NP_958782.1:p.Thr4044Met
NP_958783.1:p.Thr3875Met
NP_958784.1:p.Thr3907Met
NP_958785.1:p.Thr3911Met
NP_958786.1:p.Thr3907Met
NC_000008.10:g.144992269G>A
NM_000445.3:c.11801C>T
NM_000445.4:c.11801C>T

Protein change:

T3875M

Links:

dbSNP: rs78461695

NCBI 1000 Genomes Browser:

rs78461695

Molecular consequence:

NM_000445.5:c.11801C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.11678C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.11654C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.12131C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.11624C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.11720C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.11732C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.11720C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000332054	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jul 6, 2015)	germline	clinical testing	Citation Link,
SCV000523665	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Mar 11, 2016)	germline	clinical testing	Citation Link,
SCV003839879	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Benign (Jun 27, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000332054

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jul 6, 2015)

germline

clinical testing

Citation Link,

SCV000523665

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Mar 11, 2016)

germline

clinical testing

Citation Link,

SCV003839879

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Benign
(Jun 27, 2022)

germline

clinical testing

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	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000332054.3

#	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 GeneDx, SCV000523665.4

#	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 Genetic Services Laboratory, University of Chicago, SCV003839879.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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