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NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 1, 2019
Accession:
VCV000101467.5
Variation ID:
101467
Description:
single nucleotide variant
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NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)

Allele ID
107214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.2
Genomic location
2: 189006354 (GRCh38) GRCh38 UCSC
2: 189871080 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P02461:p.Gly1035Cys
NM_000090.3:c.3103G>T NP_000081.1:p.Gly1035Cys missense
NC_000002.11:g.189871080G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:189006353:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs587779704
ClinGen: CA006103
UniProtKB: P02461#VAR_011148
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jan 1, 2019 RCV000087706.5
Likely pathogenic 1 criteria provided, single submitter Nov 6, 2017 RCV000781312.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL3A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1856 1907

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 06, 2017)
criteria provided, single submitter
Method: clinical testing
Familial aortopathy
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000919238.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The COL3A1 c.3103G>T (p.Gly1035Cys) variant involves the alteration of a conserved nucleotide and a critical amino acid. 4/4 in silico tools predict a … (more)
Likely pathogenic
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
Ehlers-Danlos syndrome, type 4
Allele origin: germline
Invitae
Accession: SCV000814816.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change replaces glycine with cysteine at codon 1035 of the COL3A1 protein (p.Gly1035Cys). The glycine residue is moderately conserved and there is a … (more)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Ehlers-Danlos syndrome, type 4
Allele origin: germline
Collagen Diagnostic Laboratory,University of Washington
Accession: SCV000120599.1
Submitted: (Dec 19, 2013)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Frank M European journal of human genetics : EJHG 2015 PMID: 25758994
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Pepin MG Genetics in medicine : official journal of the American College of Medical Genetics 2014 PMID: 24922459
Collagen structure and stability. Shoulders MD Annual review of biochemistry 2009 PMID: 19344236
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. Pepin M The New England journal of medicine 2000 PMID: 10706896
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. Bella J Science (New York, N.Y.) 1994 PMID: 7695699
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. Long CG Biochemistry 1993 PMID: 8218237

Text-mined citations for rs587779704...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021