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NM_201384.3(PLEC):c.7425+37C>T AND Epidermolysis bullosa simplex 5B, with muscular dystrophy

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 25, 2021
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:
RCV001788094.2

Allele description [Variation Report for NM_201384.3(PLEC):c.7425+37C>T]

NM_201384.3(PLEC):c.7425+37C>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.7425+37C>T
HGVS:
  • NC_000008.11:g.143922467G>A
  • NG_012492.1:g.59279C>T
  • NM_000445.5:c.7506+37C>T
  • NM_201378.4:c.7383+37C>T
  • NM_201379.3:c.7359+37C>T
  • NM_201380.4:c.7836+37C>T
  • NM_201381.3:c.7329+37C>T
  • NM_201382.4:c.7425+37C>T
  • NM_201383.3:c.7437+37C>T
  • NM_201384.3:c.7425+37C>TMANE SELECT
  • NC_000008.10:g.144996635G>A
  • NM_000445.3:c.7506+37C>T
  • NM_000445.4:c.7506+37C>T
Links:
dbSNP: rs11786934
NCBI 1000 Genomes Browser:
rs11786934
Molecular consequence:
  • NM_000445.5:c.7506+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201378.4:c.7383+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201379.3:c.7359+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201380.4:c.7836+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201381.3:c.7329+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201382.4:c.7425+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201383.3:c.7437+37C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201384.3:c.7425+37C>T - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031302Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Oct 25, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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

Details of each submission

From Genome-Nilou Lab, SCV002031302.1

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

Last Updated: Sep 29, 2024