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NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys) AND COL6A2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 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:
RCV004539186.2

Allele description [Variation Report for NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)]

NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)

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.499G>T (p.Gly167Cys)
HGVS:
  • NC_000021.9:g.46112362G>T
  • NG_008675.1:g.19244G>T
  • NM_001849.4:c.499G>TMANE SELECT
  • NM_058174.3:c.499G>T
  • NM_058175.3:c.499G>T
  • NP_001840.3:p.Gly167Cys
  • NP_001840.3:p.Gly167Cys
  • NP_478054.2:p.Gly167Cys
  • NP_478055.2:p.Gly167Cys
  • LRG_476t1:c.499G>T
  • LRG_476:g.19244G>T
  • LRG_476p1:p.Gly167Cys
  • NC_000021.8:g.47532276G>T
  • NM_001849.3:c.499G>T
Protein change:
G167C
Molecular consequence:
  • NM_001849.4:c.499G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058174.3:c.499G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058175.3:c.499G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL6A2-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004711612PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 11, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004711612.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The COL6A2 c.499G>T variant is predicted to result in the amino acid substitution p.Gly167Cys. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Of note, a different variant in the COL6A2 gene was reported in the heterozygous state in an individual with liver dysfunction, however that variant was paternally inherited (Supplemental Table 1, Fang et al. 2021. PubMed ID: 33763395). In addition, this variant affects a Gly residue outside of the conserved triple helical domain, therefore its impact on function is unknown (Butterfield et al. 2013. PubMed ID: 24038877). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 10, 2024