11-67418899-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001166222.2(CARNS1):c.508C>T(p.Arg170Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000558 in 1,595,282 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001166222.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000560 AC: 12AN: 214454Hom.: 0 AF XY: 0.0000342 AC XY: 4AN XY: 116964
GnomAD4 exome AF: 0.0000547 AC: 79AN: 1443036Hom.: 0 Cov.: 32 AF XY: 0.0000475 AC XY: 34AN XY: 716352
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.508C>T (p.R170C) alteration is located in exon 5 (coding exon 4) of the CARNS1 gene. This alteration results from a C to T substitution at nucleotide position 508, causing the arginine (R) at amino acid position 170 to be replaced by a cysteine (C). 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