17-50184475-CAAAAAAA-CAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000088.4(COL1A1):c.*1022_*1026dupTTTTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000274 in 73,106 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000027 ( 0 hom., cov: 26)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
COL1A1
NM_000088.4 3_prime_UTR
NM_000088.4 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.156
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 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COL1A1 | NM_000088.4 | c.*1022_*1026dupTTTTT | 3_prime_UTR_variant | Exon 51 of 51 | ENST00000225964.10 | NP_000079.2 | ||
COL1A1 | XM_011524341.2 | c.*1022_*1026dupTTTTT | 3_prime_UTR_variant | Exon 48 of 48 | XP_011522643.1 | |||
COL1A1 | XM_005257058.5 | c.*1022_*1026dupTTTTT | 3_prime_UTR_variant | Exon 49 of 49 | XP_005257115.2 | |||
COL1A1 | XM_005257059.5 | c.*1022_*1026dupTTTTT | 3_prime_UTR_variant | Exon 38 of 38 | XP_005257116.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000274 AC: 2AN: 73106Hom.: 0 Cov.: 26
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 49132Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 22790
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GnomAD4 genome AF: 0.0000274 AC: 2AN: 73106Hom.: 0 Cov.: 26 AF XY: 0.0000288 AC XY: 1AN XY: 34744
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at