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NM_001849.4(COL6A2):c.*56T>G 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:
RCV000344661.5

Allele description [Variation Report for NM_001849.4(COL6A2):c.*56T>G]

NM_001849.4(COL6A2):c.*56T>G

Gene:
COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001849.4(COL6A2):c.*56T>G
HGVS:
  • NC_000021.9:g.46132608T>G
  • NG_008675.1:g.39490T>G
  • NM_001849.4:c.*56T>GMANE SELECT
  • LRG_476t1:c.*56T>G
  • LRG_476:g.39490T>G
  • NC_000021.8:g.47552522T>G
  • NM_001849.3:c.*56T>G
Links:
dbSNP: rs148337125
NCBI 1000 Genomes Browser:
rs148337125
Molecular consequence:
  • NM_001849.4:c.*56T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000436847Illumina 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, SCV000436847.2

#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