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NM_001849.4(COL6A2):c.1817-4_1817-3dup AND Collagen 6-related myopathy

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000286795.5

Allele description [Variation Report for NM_001849.4(COL6A2):c.1817-4_1817-3dup]

NM_001849.4(COL6A2):c.1817-4_1817-3dup

Gene:
COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001849.4(COL6A2):c.1817-4_1817-3dup
HGVS:
  • NC_000021.9:g.46125461_46125462dup
  • NG_008675.1:g.32343_32344dup
  • NM_001849.4:c.1817-4_1817-3dupMANE SELECT
  • NM_058174.3:c.1817-4_1817-3dup
  • NM_058175.3:c.1817-4_1817-3dup
  • LRG_476t1:c.1817-4_1817-3dup
  • LRG_476:g.32343_32344dup
  • NC_000021.8:g.47545369_47545370insCC
  • NC_000021.8:g.47545375_47545376dup
  • NM_001849.3:c.1817-4_1817-3dup
  • NM_001849.3:c.1817-4_1817-3dupCC
Links:
dbSNP: rs149954350
NCBI 1000 Genomes Browser:
rs149954350
Molecular consequence:
  • NM_001849.4:c.1817-4_1817-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058174.3:c.1817-4_1817-3dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_058175.3:c.1817-4_1817-3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Collagen 6-related myopathy
Synonyms:
Collagen VI-related myopathy
Identifiers:
MONDO: MONDO:0100225; MedGen: CN117976

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000436720Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Likely benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000436720.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024