11-107336575-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_152434.3(CWF19L2):c.2341G>A(p.Ala781Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,448,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152434.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CWF19L2 | NM_152434.3 | c.2341G>A | p.Ala781Thr | missense_variant | Exon 15 of 18 | ENST00000282251.10 | NP_689647.2 | |
CWF19L2 | XM_047426419.1 | c.913G>A | p.Ala305Thr | missense_variant | Exon 8 of 11 | XP_047282375.1 | ||
CWF19L2 | XR_007062452.1 | n.*52G>A | downstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000839 AC: 2AN: 238502Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 128768
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1448800Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 720372
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2341G>A (p.A781T) alteration is located in exon 15 (coding exon 15) of the CWF19L2 gene. This alteration results from a G to A substitution at nucleotide position 2341, causing the alanine (A) at amino acid position 781 to be replaced by a threonine (T). 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