chr2-96761001-TGGCGCCGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCG-T
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The NM_020184.4(CNNM4):c.9_55delGGTGGGCGGGGGCGGGCGCCCGGTCGGCGGACCGGCCCGCGGGCGCC(p.Val4ProfsTer214) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000001 in 997,316 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Synonymous variant affecting the same amino acid position (i.e. P3P) has been classified as Likely benign.
Frequency
Consequence
NM_020184.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000100 AC: 1AN: 997316Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 469172
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Retinal dystrophy Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.