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NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 30, 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:
RCV002490804.1

Allele description [Variation Report for NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)]

NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln)
HGVS:
  • NC_000008.11:g.143921809C>T
  • NG_012492.1:g.59937G>A
  • NM_000445.5:c.8093G>A
  • NM_201378.4:c.7970G>A
  • NM_201379.3:c.7946G>A
  • NM_201380.4:c.8423G>A
  • NM_201381.3:c.7916G>A
  • NM_201382.4:c.8012G>A
  • NM_201383.3:c.8024G>A
  • NM_201384.3:c.8012G>AMANE SELECT
  • NP_000436.2:p.Arg2698Gln
  • NP_958780.1:p.Arg2657Gln
  • NP_958781.1:p.Arg2649Gln
  • NP_958782.1:p.Arg2808Gln
  • NP_958783.1:p.Arg2639Gln
  • NP_958784.1:p.Arg2671Gln
  • NP_958785.1:p.Arg2675Gln
  • NP_958786.1:p.Arg2671Gln
  • NC_000008.10:g.144995977C>T
  • NM_000445.3:c.8093G>A
  • NM_000445.4:c.8093G>A
  • NM_201380.2:c.8423G>A
Protein change:
R2639Q
Links:
dbSNP: rs28526657
NCBI 1000 Genomes Browser:
rs28526657
Molecular consequence:
  • NM_000445.5:c.8093G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201378.4:c.7970G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201379.3:c.7946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201380.4:c.8423G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201381.3:c.7916G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201382.4:c.8012G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201383.3:c.8024G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201384.3:c.8012G>A - 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:
Junctional epidermolysis bullosa with pyloric atresia
Synonyms:
EB-PA-ACC; Epidermolysis bullosa with pyloric atresia; Carmi syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009183; MedGen: C5676875; Orphanet: 79403; OMIM: 226730
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
Name:
Epidermolysis bullosa simplex with nail dystrophy (EBS5D)
Identifiers:
MONDO: MONDO:0014661; MedGen: C4225309; OMIM: 616487

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002802667Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Aug 30, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002802667.1

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

Last Updated: Sep 29, 2024