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NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs) AND Bethlem myopathy 1A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 18, 2023
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:
RCV004555828.1

Allele description [Variation Report for NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs)]

NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs)

Gene:
COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001849.4(COL6A2):c.2874_2875insCG (p.Glu959fs)
HGVS:
  • NC_000021.9:g.46132366_46132367insCG
  • NG_008675.1:g.39248_39249insCG
  • NG_144737.1:g.410_411insCG
  • NM_001849.4:c.2874_2875insCGMANE SELECT
  • NP_001840.3:p.Glu959Argfs
  • NP_001840.3:p.Glu959fs
  • LRG_476t1:c.2874_2875insCG
  • LRG_476:g.39248_39249insCG
  • LRG_476p1:p.Glu959Argfs
  • NC_000021.8:g.47552280_47552281insCG
  • NM_001849.3:c.2874_2875insCG
Protein change:
E959fs
Molecular consequence:
  • NM_001849.4:c.2874_2875insCG - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005044880Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre
no assertion criteria provided
Likely pathogenic
(Dec 18, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Details of each submission

From Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, SCV005044880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Jun 17, 2024