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NM_133642.5(LARGE1):c.408+8G>A AND Muscular dystrophy-dystroglycanopathy type B6

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV001081988.9

Allele description [Variation Report for NM_133642.5(LARGE1):c.408+8G>A]

NM_133642.5(LARGE1):c.408+8G>A

Gene:
LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_133642.5(LARGE1):c.408+8G>A
HGVS:
  • NC_000022.11:g.33650359C>T
  • NG_009929.2:g.275070G>A
  • NM_001362949.2:c.408+8G>A
  • NM_001362951.2:c.408+8G>A
  • NM_001362953.2:c.408+8G>A
  • NM_001378624.1:c.408+8G>A
  • NM_001378625.1:c.408+8G>A
  • NM_001378626.1:c.408+8G>A
  • NM_001378627.1:c.408+8G>A
  • NM_001378628.1:c.408+8G>A
  • NM_001378629.1:c.408+8G>A
  • NM_004737.7:c.408+8G>A
  • NM_133642.5:c.408+8G>AMANE SELECT
  • LRG_856t1:c.408+8G>A
  • LRG_856t2:c.408+8G>A
  • LRG_856:g.275070G>A
  • NC_000022.10:g.34046345C>T
  • NM_004737.4:c.408+8G>A
Links:
dbSNP: rs141818070
NCBI 1000 Genomes Browser:
rs141818070
Molecular consequence:
  • NM_001362949.2:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362951.2:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001362953.2:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378624.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378625.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378626.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378627.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378628.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001378629.1:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004737.7:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133642.5:c.408+8G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Muscular dystrophy-dystroglycanopathy type B6 (MDDGB6)
Synonyms:
MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED; MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6
Identifiers:
MONDO: MONDO:0012138; MedGen: C1837229; OMIM: 608840

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000761731Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 29, 2024)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000761731.7

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

Last Updated: May 7, 2024