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NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2020
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:
RCV001753528.4

Allele description [Variation Report for NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)]

NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys)

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.3277C>T (p.Arg1093Cys)
HGVS:
  • NC_000017.11:g.50187968G>A
  • NG_007400.1:g.18672C>T
  • NM_000088.4:c.3277C>TMANE SELECT
  • NP_000079.2:p.Arg1093Cys
  • NP_000079.2:p.Arg1093Cys
  • LRG_1t1:c.3277C>T
  • LRG_1:g.18672C>T
  • LRG_1p1:p.Arg1093Cys
  • NC_000017.10:g.48265329G>A
  • NM_000088.3:c.3277C>T
Protein change:
R1093C
Links:
dbSNP: rs72656307
NCBI 1000 Genomes Browser:
rs72656307
Molecular consequence:
  • NM_000088.4:c.3277C>T - 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
SCV001986032GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 14, 2020) 		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, SCV001986032.2

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

Description

Has been reported in an individual with aortic dissection and aneurysms, but without other features of EDS (Malfait et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Located in the Gly-Xaa-Yaa triple helical region of the pro-alpha1(I) chain encoded by the COL1A1 gene, where triplet glycine substitutions are the most common cause of osteogenesis imperfecta (OI). The effect of missense substitution at the X and Y positions are more difficult to predict; however, multiple variants that result in introduction of a Cys residue in pro-alpha1(I) have been reported to be pathogenic (Dalgleish, 1998).; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 161457; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 17211858, 28306225)

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

Last Updated: May 7, 2024