rs373347042
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001166222.2(CARNS1):c.287C>T(p.Ala96Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000024 in 1,457,178 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152124Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000176 AC: 23AN: 1305054Hom.: 0 Cov.: 31 AF XY: 0.0000126 AC XY: 8AN XY: 636536
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152124Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.287C>T (p.A96V) alteration is located in exon 4 (coding exon 3) of the CARNS1 gene. This alteration results from a C to T substitution at nucleotide position 287, causing the alanine (A) at amino acid position 96 to be replaced by a valine (V). 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