chr11-67418845-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001166222.2(CARNS1):c.454G>T(p.Ala152Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000131 in 1,448,692 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_001166222.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000712 AC: 16AN: 224804Hom.: 0 AF XY: 0.0000326 AC XY: 4AN XY: 122716
GnomAD4 exome AF: 0.0000131 AC: 19AN: 1448692Hom.: 0 Cov.: 32 AF XY: 0.00000834 AC XY: 6AN XY: 719660
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.454G>T (p.A152S) alteration is located in exon 5 (coding exon 4) of the CARNS1 gene. This alteration results from a G to T substitution at nucleotide position 454, causing the alanine (A) at amino acid position 152 to be replaced by a serine (S). 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