rs141102808
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Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBS1BS2
The NM_004370.6(COL12A1):c.7698-19_7698-15del variant causes a splice polypyrimidine tract, intron change. The variant allele was found at a frequency of 0.0141 in 1,500,544 control chromosomes in the GnomAD database, including 165 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.011 ( 10 hom., cov: 32)
Exomes 𝑓: 0.014 ( 155 hom. )
Consequence
COL12A1
NM_004370.6 splice_polypyrimidine_tract, intron
NM_004370.6 splice_polypyrimidine_tract, intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 3.65
Genes affected
COL12A1 (HGNC:2188): (collagen type XII alpha 1 chain) This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -16 ACMG points.
BP6
?
Variant 6-75113758-CAAAAG-C is Benign according to our data. Variant chr6-75113758-CAAAAG-C is described in ClinVar as [Likely_benign]. Clinvar id is 259346.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr6-75113758-CAAAAG-C is described in Lovd as [Likely_benign]. Variant chr6-75113758-CAAAAG-C is described in Lovd as [Benign].
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0111 (1560/140206) while in subpopulation NFE AF= 0.0183 (1148/62890). AF 95% confidence interval is 0.0174. There are 10 homozygotes in gnomad4. There are 759 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 10 AD,AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL12A1 | NM_004370.6 | c.7698-19_7698-15del | splice_polypyrimidine_tract_variant, intron_variant | ENST00000322507.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL12A1 | ENST00000322507.13 | c.7698-19_7698-15del | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_004370.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0111 AC: 1560AN: 140082Hom.: 10 Cov.: 32
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GnomAD3 exomes AF: 0.0107 AC: 2214AN: 206878Hom.: 14 AF XY: 0.0108 AC XY: 1222AN XY: 113652
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GnomAD4 exome AF: 0.0145 AC: 19657AN: 1360338Hom.: 155 AF XY: 0.0141 AC XY: 9538AN XY: 674160
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GnomAD4 genome ? AF: 0.0111 AC: 1560AN: 140206Hom.: 10 Cov.: 32 AF XY: 0.0111 AC XY: 759AN XY: 68518
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:5
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:2
Benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, Amsterdam University Medical Center | - | - - |
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:2
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics, Academic Medical Center | - | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 22, 2019 | - - |
Bethlem myopathy 2;C4225314:Ullrich congenital muscular dystrophy 2 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at