1-243136201-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_014812.3(CEP170):c.4261G>A(p.Val1421Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000119 in 151,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014812.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CEP170 | ENST00000366542.6 | c.4261G>A | p.Val1421Ile | missense_variant | Exon 17 of 20 | 5 | NM_014812.3 | ENSP00000355500.1 | ||
CEP170 | ENST00000366544.5 | c.3967G>A | p.Val1323Ile | missense_variant | Exon 16 of 19 | 5 | ENSP00000355502.1 | |||
CEP170 | ENST00000366543.5 | c.3889G>A | p.Val1297Ile | missense_variant | Exon 16 of 19 | 5 | ENSP00000355501.1 |
Frequencies
GnomAD3 genomes AF: 0.000119 AC: 18AN: 151720Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000678 AC: 94AN: 1385840Hom.: 0 Cov.: 28 AF XY: 0.0000674 AC XY: 46AN XY: 682816
GnomAD4 genome AF: 0.000119 AC: 18AN: 151838Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4261G>A (p.V1421I) alteration is located in exon 17 (coding exon 16) of the CEP170 gene. This alteration results from a G to A substitution at nucleotide position 4261, causing the valine (V) at amino acid position 1421 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at