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NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2022
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:
RCV001560397.4

Allele description [Variation Report for NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)]

NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)

Gene:
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q32.2
Genomic location:
Preferred name:
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)
HGVS:
  • NC_000002.12:g.188994297G>A
  • NG_007404.1:g.24925G>A
  • NM_000090.4:c.1258G>AMANE SELECT
  • NP_000081.1:p.Gly420Ser
  • NP_000081.2:p.Gly420Ser
  • LRG_3t1:c.1258G>A
  • LRG_3:g.24925G>A
  • LRG_3p1:p.Gly420Ser
  • NC_000002.11:g.189859023G>A
  • NM_000090.3:c.1258G>A
  • P02461:p.Gly420Ser
Links:
UniProtKB: P02461#VAR_035738; dbSNP: rs587779692
NCBI 1000 Genomes Browser:
rs587779692
Molecular consequence:
  • NM_000090.4:c.1258G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001782805GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 1, 2022) 		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, SCV001782805.3

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

Description

Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain and replaces the glycine in the canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (HGMD); This variant is associated with the following publications: (PMID: 21086191, 24922459, 8218237, 33726816, 31447099)

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

Last Updated: Sep 29, 2024