11-67419118-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001166222.2(CARNS1):c.727C>T(p.Arg243Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000172 in 1,573,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152080Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000520 AC: 10AN: 192160Hom.: 0 AF XY: 0.0000669 AC XY: 7AN XY: 104664
GnomAD4 exome AF: 0.0000127 AC: 18AN: 1420932Hom.: 0 Cov.: 32 AF XY: 0.0000157 AC XY: 11AN XY: 701932
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152198Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74412
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.727C>T (p.R243W) 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 727, causing the arginine (R) at amino acid position 243 to be replaced by a tryptophan (W). 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