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NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) AND Bethlem myopathy 1A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2019
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:
RCV001043033.8

Allele description [Variation Report for NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln)]

NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln)

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.2083G>C (p.Glu695Gln)
HGVS:
  • NC_000021.9:g.46125898G>C
  • NG_008675.1:g.32780G>C
  • NM_001849.4:c.2083G>CMANE SELECT
  • NM_058174.3:c.2083G>C
  • NM_058175.3:c.2083G>C
  • NP_001840.3:p.Glu695Gln
  • NP_001840.3:p.Glu695Gln
  • NP_478054.2:p.Glu695Gln
  • NP_478055.2:p.Glu695Gln
  • LRG_476t1:c.2083G>C
  • LRG_476:g.32780G>C
  • LRG_476p1:p.Glu695Gln
  • NC_000021.8:g.47545812G>C
  • NM_001849.3:c.2083G>C
Protein change:
E695Q
Links:
dbSNP: rs377376395
NCBI 1000 Genomes Browser:
rs377376395
Molecular consequence:
  • NM_001849.4:c.2083G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058174.3:c.2083G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058175.3:c.2083G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001206744Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Dec 11, 2019) 		germlineclinical testing

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

Help

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001206744.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 598299). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 695 of the COL6A2 protein (p.Glu695Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024