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NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro) AND Autosomal recessive limb-girdle muscular dystrophy type 2Q

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000790414.1

Allele description [Variation Report for NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro)]

NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro)

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.2024T>C (p.Leu675Pro)
HGVS:
  • NC_000008.11:g.143932188A>G
  • NG_012492.1:g.49558T>C
  • NM_000445.5:c.2105T>C
  • NM_201378.4:c.1982T>C
  • NM_201379.3:c.1958T>C
  • NM_201380.4:c.2435T>C
  • NM_201381.3:c.1928T>C
  • NM_201382.4:c.2024T>C
  • NM_201383.3:c.2036T>C
  • NM_201384.3:c.2024T>CMANE SELECT
  • NP_000436.2:p.Leu702Pro
  • NP_958780.1:p.Leu661Pro
  • NP_958781.1:p.Leu653Pro
  • NP_958782.1:p.Leu812Pro
  • NP_958783.1:p.Leu643Pro
  • NP_958784.1:p.Leu675Pro
  • NP_958785.1:p.Leu679Pro
  • NP_958786.1:p.Leu675Pro
  • NC_000008.10:g.145006356A>G
  • NM_000445.3:c.2105T>C
  • NM_000445.4:c.2105T>C
Protein change:
L643P
Links:
dbSNP: rs782636181
NCBI 1000 Genomes Browser:
rs782636181
Molecular consequence:
  • NM_000445.5:c.2105T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201378.4:c.1982T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201379.3:c.1958T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201380.4:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201381.3:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201382.4:c.2024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201383.3:c.2036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201384.3:c.2024T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMDR17)
Synonyms:
Limb-girdle muscular dystrophy, type 2Q; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17
Identifiers:
MONDO: MONDO:0013390; MedGen: C3150989; Orphanet: 254361; OMIM: 613723

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925652Ege University Pediatric Genetics, Ege University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 15, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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

Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.

Isik E, Onay H, Atik T, Canda E, Cogulu O, Coker M, Ozkinay F.

Eur J Med Genet. 2019 Oct;62(10):103725. doi: 10.1016/j.ejmg.2019.103725. Epub 2019 Jul 15.

PubMed [citation]
PMID:
31319225

Details of each submission

From Ege University Pediatric Genetics, Ege University, SCV000925652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024