U.S. flag

An official website of the United States government

NM_201384.3(PLEC):c.*10C>T AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Nov 14, 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:
RCV000078827.17

Allele description [Variation Report for NM_201384.3(PLEC):c.*10C>T]

NM_201384.3(PLEC):c.*10C>T

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.*10C>T
HGVS:
  • NC_000008.11:g.143916167G>A
  • NG_012492.1:g.65579C>T
  • NM_000445.5:c.*10C>T
  • NM_201378.4:c.*10C>T
  • NM_201379.3:c.*10C>T
  • NM_201380.4:c.*10C>T
  • NM_201381.3:c.*10C>T
  • NM_201382.4:c.*10C>T
  • NM_201383.3:c.*10C>T
  • NM_201384.3:c.*10C>TMANE SELECT
  • NC_000008.10:g.144990335G>A
  • NM_000445.3:c.*10C>T
  • NM_000445.4:c.*10C>T
  • NM_201380.2:c.*10C>T
Links:
dbSNP: rs1065837
NCBI 1000 Genomes Browser:
rs1065837
Molecular consequence:
  • NM_000445.5:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201378.4:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201379.3:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201380.4:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201381.3:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201382.4:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201383.3:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_201384.3:c.*10C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
Observations:
8

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110687Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Nov 14, 2016)
germlineclinical testing

Citation Link,

SCV000269644Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Nov 24, 2014)
germlineclinical testing

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

SCV000304298PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided88not providednot providednot providedclinical testing
not providedgermlineunknown61not providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

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), SCV000110687.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided61not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided61not providednot providednot provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000269644.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testing PubMed (1)

Description

*10C>T in exon 32 of PLEC: This variant is not expected to have clinical signifi cance because it has been identified in 60.7% (17/28) of Spanish (Iberian) chrom osomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm. nih.gov/projects/SNP; dbSNP rs1065837).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided8not provided8not provided

From PreventionGenetics, part of Exact Sciences, SCV000304298.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024