rs72656352
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM4PP5
The NM_000088.4(COL1A1):c.4358_4362del(p.Glu1453GlyfsTer96) variant causes a frameshift change involving the alteration of a conserved nucleotide. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: not found (cov: 29)
Consequence
COL1A1
NM_000088.4 frameshift
NM_000088.4 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 9.32
Genes affected
COL1A1 (HGNC:2197): (collagen type I alpha 1 chain) This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM4
?
Frameshift in the end of transcript resulting in stoplost. Downstream stopcodon found after 1677 codons.
PP5
?
Variant 17-50185534-CGAATT-C is Pathogenic according to our data. Variant chr17-50185534-CGAATT-C is described in ClinVar as [Pathogenic]. Clinvar id is 17307.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr17-50185534-CGAATT-C is described in Lovd as [Pathogenic]. Variant chr17-50185534-CGAATT-C is described in Lovd as [Pathogenic].
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL1A1 | NM_000088.4 | c.4358_4362del | p.Glu1453GlyfsTer96 | frameshift_variant | 51/51 | ENST00000225964.10 | |
COL1A1 | XM_005257058.5 | c.4088_4092del | p.Glu1363GlyfsTer96 | frameshift_variant | 49/49 | ||
COL1A1 | XM_005257059.5 | c.3440_3444del | p.Glu1147GlyfsTer96 | frameshift_variant | 38/38 | ||
COL1A1 | XM_011524341.2 | c.4160_4164del | p.Glu1387GlyfsTer96 | frameshift_variant | 48/48 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL1A1 | ENST00000225964.10 | c.4358_4362del | p.Glu1453GlyfsTer96 | frameshift_variant | 51/51 | 1 | NM_000088.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 29
GnomAD3 genomes
?
Cov.:
29
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? Cov.: 29
GnomAD4 genome
?
Cov.:
29
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Osteogenesis imperfecta type I Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jan 01, 1990 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at