1-35715814-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152374.2(C1orf216):c.508G>A(p.Val170Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000266 in 1,614,128 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152374.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000289 AC: 44AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000167 AC: 42AN: 251474Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135918
GnomAD4 exome AF: 0.000264 AC: 386AN: 1461888Hom.: 1 Cov.: 31 AF XY: 0.000254 AC XY: 185AN XY: 727246
GnomAD4 genome AF: 0.000289 AC: 44AN: 152240Hom.: 0 Cov.: 33 AF XY: 0.000390 AC XY: 29AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.508G>A (p.V170M) alteration is located in exon 2 (coding exon 1) of the C1orf216 gene. This alteration results from a G to A substitution at nucleotide position 508, causing the valine (V) at amino acid position 170 to be replaced by a methionine (M). 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