20-62836546-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001853.4(COL9A3):c.1603+14G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.902 in 1,603,554 control chromosomes in the GnomAD database, including 653,013 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001853.4 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: 0.916 AC: 139389AN: 152126Hom.: 63940 Cov.: 34
GnomAD3 exomes AF: 0.920 AC: 212212AN: 230572Hom.: 97728 AF XY: 0.920 AC XY: 115206AN XY: 125272
GnomAD4 exome AF: 0.900 AC: 1306898AN: 1451310Hom.: 589022 Cov.: 47 AF XY: 0.902 AC XY: 650030AN XY: 720812
GnomAD4 genome AF: 0.916 AC: 139500AN: 152244Hom.: 63991 Cov.: 34 AF XY: 0.919 AC XY: 68362AN XY: 74416
ClinVar
Submissions by phenotype
not specified Benign:7
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at