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NM_001379500.1(COL18A1):c.107-12197G>A AND COL18A1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 2024
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:
RCV004553126.2

Allele description [Variation Report for NM_001379500.1(COL18A1):c.107-12197G>A]

NM_001379500.1(COL18A1):c.107-12197G>A

Gene:
COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_001379500.1(COL18A1):c.107-12197G>A
Other names:
NM_130445.2:c.107-12197G>A
HGVS:
  • NC_000021.9:g.45456045G>A
  • NG_011903.1:g.55863G>A
  • NM_001379500.1:c.107-12197G>AMANE SELECT
  • NM_030582.4:c.515G>A
  • NM_130444.3:c.515G>A
  • NP_085059.2:p.Arg172His
  • NP_569711.2:p.Arg172His
  • NC_000021.8:g.46875959G>A
  • NM_030582.3:c.515G>A
Protein change:
R172H
Links:
dbSNP: rs200284308
NCBI 1000 Genomes Browser:
rs200284308
Molecular consequence:
  • NM_001379500.1:c.107-12197G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030582.4:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130444.3:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
COL18A1-related disorder
Synonyms:
COL18A1-related disorders; COL18A1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004722672PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jul 9, 2024) 		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, SCV004722672.2

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

Description

The COL18A1 c.515G>A variant is predicted to result in the amino acid substitution p.Arg172His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.090% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which is likely too frequent for an unreported disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance 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: Jan 19, 2025