rs200902198
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Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001849.4(COL6A2):c.802-45C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000254 in 1,591,290 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Genomes: 𝑓 0.00027 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00025 ( 3 hom. )
Consequence
COL6A2
NM_001849.4 intron
NM_001849.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.343
Genes affected
COL6A2 (HGNC:2212): (collagen type VI alpha 2 chain) This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP4
This place is a probable branch point but likely benign (scored 3 / 10). Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BP6
Variant 21-46115827-C-T is Benign according to our data. Variant chr21-46115827-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 258334.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High Homozygotes in GnomAdExome4 at 3 AD,AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COL6A2 | NM_001849.4 | c.802-45C>T | intron_variant | ENST00000300527.9 | |||
COL6A2 | NM_058174.3 | c.802-45C>T | intron_variant | ENST00000397763.6 | |||
COL6A2 | NM_058175.3 | c.802-45C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COL6A2 | ENST00000300527.9 | c.802-45C>T | intron_variant | 1 | NM_001849.4 | P1 | |||
COL6A2 | ENST00000397763.6 | c.802-45C>T | intron_variant | 5 | NM_058174.3 | ||||
COL6A2 | ENST00000409416.6 | c.802-45C>T | intron_variant | 5 | |||||
COL6A2 | ENST00000485591.1 | n.458-45C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000276 AC: 42AN: 152160Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000227 AC: 54AN: 237974Hom.: 0 AF XY: 0.000239 AC XY: 31AN XY: 129786
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GnomAD4 exome AF: 0.000252 AC: 363AN: 1439014Hom.: 3 Cov.: 31 AF XY: 0.000233 AC XY: 167AN XY: 716942
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GnomAD4 genome AF: 0.000269 AC: 41AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74460
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
BranchPoint Hunter
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at