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NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 22, 2017
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:
RCV000522435.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)]

NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val)
HGVS:
  • NC_000017.11:g.50197757C>A
  • NG_007400.1:g.8883G>T
  • NM_000088.4:c.671G>TMANE SELECT
  • NP_000079.2:p.Gly224Val
  • NP_000079.2:p.Gly224Val
  • LRG_1t1:c.671G>T
  • LRG_1:g.8883G>T
  • LRG_1p1:p.Gly224Val
  • NC_000017.10:g.48275118C>A
  • NM_000088.3:c.671G>T
Protein change:
G224V
Links:
dbSNP: rs1555574641
NCBI 1000 Genomes Browser:
rs1555574641
Molecular consequence:
  • NM_000088.4:c.671G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000619816GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 22, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000619816.2

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

Description

The G224V pathogenic variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. G224V occurs in the triple helical domain and replaces the Glycine in the canonical Gly-X-Y repeat. Variants in these Glycines result in poor winding of the collagen triple helix and a less functional protein. The G224V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G224V variant occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same and nearby Glycine residues (G224S/C, G221S/C/A, G239D) have been reported in the Human Gene Mutation Database in association with COL1A1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, the presence of this pathogenic variant is consistent with the diagnosis of a COL1A1-related skeletal dysplasia

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

Last Updated: Feb 28, 2024