NM_201384.3(PLEC):c.13474G>A (p.Gly4492Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 10, 2017
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:: RCV000728688.5

Allele description [Variation Report for NM_201384.3(PLEC):c.13474G>A (p.Gly4492Ser)]

NM_201384.3(PLEC):c.13474G>A (p.Gly4492Ser)

Gene:

PLEC:plectin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

Preferred name:

NM_201384.3(PLEC):c.13474G>A (p.Gly4492Ser)

HGVS:

NC_000008.11:g.143916347C>T
NG_012492.1:g.65399G>A
NM_000445.5:c.13555G>A
NM_201378.4:c.13432G>A
NM_201379.3:c.13408G>A
NM_201380.4:c.13885G>A
NM_201381.3:c.13378G>A
NM_201382.4:c.13474G>A
NM_201383.3:c.13486G>A
NM_201384.3:c.13474G>AMANE SELECT
NP_000436.2:p.Gly4519Ser
NP_958780.1:p.Gly4478Ser
NP_958781.1:p.Gly4470Ser
NP_958782.1:p.Gly4629Ser
NP_958783.1:p.Gly4460Ser
NP_958784.1:p.Gly4492Ser
NP_958785.1:p.Gly4496Ser
NP_958786.1:p.Gly4492Ser
NC_000008.10:g.144990515C>T
NM_000445.4:c.13555G>A

Protein change:

G4460S

Links:

dbSNP: rs781954922

NCBI 1000 Genomes Browser:

rs781954922

Molecular consequence:

NM_000445.5:c.13555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201378.4:c.13432G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201379.3:c.13408G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201380.4:c.13885G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201381.3:c.13378G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201382.4:c.13474G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201383.3:c.13486G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_201384.3:c.13474G>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
SCV000856292	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 10, 2017)	germline	clinical testing	Citation Link,
SCV005196151	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000856292

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Aug 10, 2017)

germline

clinical testing

Citation Link,

SCV005196151

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	not provided
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), SCV000856292.1

#	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 Breakthrough Genomics, Breakthrough Genomics, SCV005196151.1

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

#	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

Last Updated: Sep 29, 2024

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