rs2241802
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001412909.1(FZD3):c.-139A>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.56 in 1,612,640 control chromosomes in the GnomAD database, including 254,266 homozygotes. 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_001412909.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FZD3 | ENST00000240093.8 | c.435A>G | p.Leu145Leu | synonymous_variant | Exon 5 of 8 | 1 | NM_017412.4 | ENSP00000240093.3 | ||
FZD3 | ENST00000537916.2 | c.435A>G | p.Leu145Leu | synonymous_variant | Exon 4 of 7 | 2 | ENSP00000437489.1 |
Frequencies
GnomAD3 genomes AF: 0.533 AC: 80903AN: 151738Hom.: 22095 Cov.: 30
GnomAD3 exomes AF: 0.569 AC: 142861AN: 250878Hom.: 41138 AF XY: 0.577 AC XY: 78181AN XY: 135604
GnomAD4 exome AF: 0.563 AC: 821803AN: 1460784Hom.: 232161 Cov.: 41 AF XY: 0.566 AC XY: 411269AN XY: 726746
GnomAD4 genome AF: 0.533 AC: 80952AN: 151856Hom.: 22105 Cov.: 30 AF XY: 0.538 AC XY: 39936AN XY: 74204
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at