11-107336627-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_152434.3(CWF19L2):c.2289G>A(p.Gln763Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,328 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_152434.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CWF19L2 | NM_152434.3 | c.2289G>A | p.Gln763Gln | synonymous_variant | Exon 15 of 18 | ENST00000282251.10 | NP_689647.2 | |
CWF19L2 | XM_047426419.1 | c.861G>A | p.Gln287Gln | synonymous_variant | Exon 8 of 11 | XP_047282375.1 | ||
CWF19L2 | XR_007062452.1 | n.2375G>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 16 of 16 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453328Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 722946
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.