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NM_004369.4(COL6A3):c.7669-2del AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000477801.1

Allele description [Variation Report for NM_004369.4(COL6A3):c.7669-2del]

NM_004369.4(COL6A3):c.7669-2del

Gene:
COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_004369.4(COL6A3):c.7669-2del
HGVS:
  • NC_000002.12:g.237342163del
  • NG_008676.1:g.77045del
  • NM_004369.4:c.7669-2delMANE SELECT
  • NM_057166.5:c.5848-2del
  • NM_057167.4:c.7051-2del
  • LRG_473:g.77045del
  • NC_000002.11:g.238250806del
  • NM_004369.3:c.7669-2delA
Links:
dbSNP: rs764193290
NCBI 1000 Genomes Browser:
rs764193290
Molecular consequence:
  • NM_004369.4:c.7669-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_057166.5:c.5848-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_057167.4:c.7051-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Bethlem myopathy 1A
Synonyms:
MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES; Bethlem myopathy 1
Identifiers:
MONDO: MONDO:0024530; MedGen: CN029274; Orphanet: 610; OMIM: 158810
Name:
Ullrich congenital muscular dystrophy 1A
Synonyms:
Late onset scleroatonic familial myopathy (subtype); Ullrich congenital muscular dystrophy 1
Identifiers:
MONDO: MONDO:0009681; MedGen: C0410179; Orphanet: 75840; OMIM: 254090
Name:
Dystonia 27 (DYT27)
Identifiers:
MONDO: MONDO:0014627; MedGen: C4225336; OMIM: 616411

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536777Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no assertion criteria provided
Likely pathogenic
(Feb 10, 2016) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536777.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025