chr22-37491768-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014550.4(CARD10):c.2851G>A(p.Val951Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000154 in 1,569,912 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_014550.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000547 AC: 8AN: 146192Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000803 AC: 20AN: 248988Hom.: 0 AF XY: 0.0000667 AC XY: 9AN XY: 134998
GnomAD4 exome AF: 0.000164 AC: 233AN: 1423720Hom.: 0 Cov.: 28 AF XY: 0.000169 AC XY: 120AN XY: 709664
GnomAD4 genome AF: 0.0000547 AC: 8AN: 146192Hom.: 0 Cov.: 26 AF XY: 0.0000563 AC XY: 4AN XY: 71052
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2851G>A (p.V951I) alteration is located in exon 19 (coding exon 19) of the CARD10 gene. This alteration results from a G to A substitution at nucleotide position 2851, causing the valine (V) at amino acid position 951 to be replaced by an isoleucine (I). 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