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NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000509199.1

Allele description [Variation Report for NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)]

NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)
HGVS:
  • NC_000008.11:g.143923948A>G
  • NG_012492.1:g.57798T>C
  • NM_000445.3:c.6062T>C
  • NM_000445.5:c.6062T>C
  • NM_201378.4:c.5939T>C
  • NM_201379.3:c.5915T>C
  • NM_201380.4:c.6392T>C
  • NM_201381.3:c.5885T>C
  • NM_201382.4:c.5981T>C
  • NM_201383.3:c.5993T>C
  • NM_201384.3:c.5981T>CMANE SELECT
  • NP_000436.2:p.Leu2021Pro
  • NP_958780.1:p.Leu1980Pro
  • NP_958781.1:p.Leu1972Pro
  • NP_958782.1:p.Leu2131Pro
  • NP_958783.1:p.Leu1962Pro
  • NP_958784.1:p.Leu1994Pro
  • NP_958785.1:p.Leu1998Pro
  • NP_958786.1:p.Leu1994Pro
  • NC_000008.10:g.144998116A>G
  • NM_000445.4:c.6062T>C
Protein change:
L1962P
Links:
dbSNP: rs886044775
NCBI 1000 Genomes Browser:
rs886044775
Molecular consequence:
  • NM_000445.5:c.6062T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201378.4:c.5939T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201379.3:c.5915T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201380.4:c.6392T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201381.3:c.5885T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201382.4:c.5981T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201383.3:c.5993T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201384.3:c.5981T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epidermolysis bullosa simplex 5B, with muscular dystrophy (EBS5B)
Synonyms:
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY; Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex with muscular dystrophy
Identifiers:
MONDO: MONDO:0009181; MedGen: C2931072; Orphanet: 257; OMIM: 226670
Name:
Epidermolysis bullosa simplex, Ogna type (EBS5A)
Synonyms:
EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE; Pidermolysis bullosa simplex 5A, Ogna type
Identifiers:
MONDO: MONDO:0007555; MedGen: C0432317; Orphanet: 79401; OMIM: 131950
Name:
Epidermolysis bullosa simplex 5C, with pyloric atresia (EBS5C)
Synonyms:
Epidermolysis bullosa simplex with pyloric atresia; PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia
Identifiers:
MONDO: MONDO:0012807; MedGen: C2677349; Orphanet: 158684; OMIM: 612138
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
SCV000607090GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607090.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024