22-37492481-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014550.4(CARD10):c.2705C>T(p.Pro902Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000524 in 1,602,244 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CARD10 | NM_014550.4 | c.2705C>T | p.Pro902Leu | missense_variant | 18/20 | ENST00000251973.10 | NP_055365.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CARD10 | ENST00000251973.10 | c.2705C>T | p.Pro902Leu | missense_variant | 18/20 | 1 | NM_014550.4 | ENSP00000251973.5 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000202 AC: 49AN: 242960Hom.: 0 AF XY: 0.000197 AC XY: 26AN XY: 131784
GnomAD4 exome AF: 0.0000497 AC: 72AN: 1449890Hom.: 0 Cov.: 32 AF XY: 0.0000458 AC XY: 33AN XY: 720004
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152354Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 11, 2024 | The c.2705C>T (p.P902L) alteration is located in exon 18 (coding exon 18) of the CARD10 gene. This alteration results from a C to T substitution at nucleotide position 2705, causing the proline (P) at amino acid position 902 to be replaced by a leucine (L). 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