chr6-70263290-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001851.6(COL9A1):āc.1349A>Gā(p.Glu450Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00402 in 1,609,246 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_001851.6 missense
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: 0.00336 AC: 511AN: 152062Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00364 AC: 907AN: 249288Hom.: 2 AF XY: 0.00363 AC XY: 489AN XY: 134842
GnomAD4 exome AF: 0.00409 AC: 5956AN: 1457066Hom.: 13 Cov.: 30 AF XY: 0.00402 AC XY: 2910AN XY: 724594
GnomAD4 genome AF: 0.00336 AC: 512AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.00337 AC XY: 251AN XY: 74406
ClinVar
Submissions by phenotype
not provided Benign:7
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COL9A1: BS2 -
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This variant is associated with the following publications: (PMID: 26770814, 24828792, 27353947) -
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not specified Benign:2
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Epiphyseal dysplasia, multiple, 6 Benign:1
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Connective tissue disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at