1-207563966-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000651.6(CR1):c.3689A>G(p.Tyr1230Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000429 in 1,399,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000651.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 117100Hom.: 1 Cov.: 16 FAILED QC
GnomAD4 exome AF: 0.00000429 AC: 6AN: 1399266Hom.: 0 Cov.: 31 AF XY: 0.00000718 AC XY: 5AN XY: 696632
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000171 AC: 2AN: 117100Hom.: 1 Cov.: 16 AF XY: 0.0000352 AC XY: 2AN XY: 56880
ClinVar
Submissions by phenotype
not provided Uncertain:1
CR1: PM2:Supporting, PM3:Supporting, PP2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at