U.S. flag

An official website of the United States government

NM_201384.3(PLEC):c.4045-4A>G AND Autosomal recessive limb-girdle muscular dystrophy type 2Q

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:
RCV001789073.3

Allele description [Variation Report for NM_201384.3(PLEC):c.4045-4A>G]

NM_201384.3(PLEC):c.4045-4A>G

Gene:
PLEC:plectin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_201384.3(PLEC):c.4045-4A>G
HGVS:
  • NC_000008.11:g.143925888T>C
  • NG_012492.1:g.55858A>G
  • NM_000445.5:c.4126-4A>G
  • NM_201378.4:c.4003-4A>G
  • NM_201379.3:c.3979-4A>G
  • NM_201380.4:c.4456-4A>G
  • NM_201381.3:c.3949-4A>G
  • NM_201382.4:c.4045-4A>G
  • NM_201383.3:c.4057-4A>G
  • NM_201384.3:c.4045-4A>GMANE SELECT
  • NC_000008.10:g.145000056T>C
  • NM_000445.3:c.4126-4A>G
  • NM_000445.4:c.4126-4A>G
  • NM_201380.2:c.4456-4A>G
Links:
dbSNP: rs7002152
NCBI 1000 Genomes Browser:
rs7002152
Molecular consequence:
  • NM_000445.5:c.4126-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201378.4:c.4003-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201379.3:c.3979-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201380.4:c.4456-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201381.3:c.3949-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201382.4:c.4045-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201383.3:c.4057-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_201384.3:c.4045-4A>G - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031354Genome-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, SCV002031354.1

#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