rs55682104
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001854.4(COL11A1):c.3025-23A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.102 in 1,545,698 control chromosomes in the GnomAD database, including 8,988 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_001854.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0800 AC: 12164AN: 152044Hom.: 681 Cov.: 32
GnomAD3 exomes AF: 0.0927 AC: 23239AN: 250790Hom.: 1426 AF XY: 0.0984 AC XY: 13341AN XY: 135534
GnomAD4 exome AF: 0.104 AC: 145389AN: 1393536Hom.: 8308 Cov.: 23 AF XY: 0.106 AC XY: 73934AN XY: 697688
GnomAD4 genome AF: 0.0799 AC: 12162AN: 152162Hom.: 680 Cov.: 32 AF XY: 0.0816 AC XY: 6070AN XY: 74378
ClinVar
Submissions by phenotype
not provided Benign:2
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Hearing loss, autosomal dominant 37 Benign:1
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not specified Benign:1
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Marshall syndrome Benign:1
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Fibrochondrogenesis 1 Benign:1
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Stickler syndrome type 2 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at