rs1057518441
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The ENST00000339818.9(CFAP410):c.182G>A(p.Cys61Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,412 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. C61G) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000339818.9 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CFAP410 | NM_004928.3 | c.182G>A | p.Cys61Tyr | missense_variant | 4/7 | ENST00000339818.9 | NP_004919.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CFAP410 | ENST00000339818.9 | c.182G>A | p.Cys61Tyr | missense_variant | 4/7 | 1 | NM_004928.3 | ENSP00000344566 | P4 | |
ENST00000448927.1 | n.1727C>T | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460412Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726448
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
Retinal dystrophy with or without macular staphyloma Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jul 17, 2018 | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Nov 30, 2016 | The C61Y variant in the C21orf2 gene has been reported previously in homozygous state in an individual with early-onset retinal dystrophy and short stature (Khan et al., 2015). The C61Y variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C61Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function.We interpret C61Y as a variant of uncertain significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at