1-103025905-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_080629.3(COL11A1):c.828A>C(p.Lys276Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0653 in 1,612,598 control chromosomes in the GnomAD database, including 3,701 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_080629.3 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: 0.0789 AC: 12002AN: 152066Hom.: 529 Cov.: 32
GnomAD3 exomes AF: 0.0706 AC: 17714AN: 250762Hom.: 716 AF XY: 0.0704 AC XY: 9554AN XY: 135614
GnomAD4 exome AF: 0.0638 AC: 93242AN: 1460414Hom.: 3169 Cov.: 31 AF XY: 0.0638 AC XY: 46379AN XY: 726624
GnomAD4 genome AF: 0.0791 AC: 12033AN: 152184Hom.: 532 Cov.: 32 AF XY: 0.0804 AC XY: 5982AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:2
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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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at