NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 3, 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:
RCV000490181.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu)]

NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu)

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.1076G>A (p.Gly359Glu)
HGVS:
  • NC_000017.11:g.50195646C>T
  • NG_007400.1:g.10994G>A
  • NM_000088.4:c.1076G>AMANE SELECT
  • NP_000079.2:p.Gly359Glu
  • NP_000079.2:p.Gly359Glu
  • LRG_1t1:c.1076G>A
  • LRG_1:g.10994G>A
  • LRG_1p1:p.Gly359Glu
  • NC_000017.10:g.48273007C>T
  • NM_000088.3:c.1076G>A
Protein change:
G359E
Links:
dbSNP: rs1085307454
NCBI 1000 Genomes Browser:
rs1085307454
Molecular consequence:
  • NM_000088.4:c.1076G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576485GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 3, 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, SCV000576485.3

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

Description

The G359E pathogenic variant in the COL1A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The G359E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G359E variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The G359E variant results in substitution of a Glycine residue in the Gly-X-Y repetitive motif of the triple helical region of the COL1A1 gene. In this domain, the Glycine in the triplet repeat is critical for protein folding and substitution of a triplet Glycine is a known pathogenic mechanism (Stenson et al., 2014; Symoens et al., 2012). We interpret G359E as a pathogenic variant

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

Last Updated: Apr 23, 2022