chr8-103300153-C-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_003506.4(FZD6):āc.46C>Gā(p.Leu16Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00462 in 1,602,314 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_003506.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FZD6 | NM_003506.4 | c.46C>G | p.Leu16Val | missense_variant | 2/7 | ENST00000358755.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FZD6 | ENST00000358755.5 | c.46C>G | p.Leu16Val | missense_variant | 2/7 | 1 | NM_003506.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00300 AC: 457AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00306 AC: 769AN: 251448Hom.: 4 AF XY: 0.00302 AC XY: 410AN XY: 135906
GnomAD4 exome AF: 0.00479 AC: 6949AN: 1450072Hom.: 25 Cov.: 28 AF XY: 0.00474 AC XY: 3420AN XY: 722144
GnomAD4 genome AF: 0.00300 AC: 457AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.00271 AC XY: 202AN XY: 74440
ClinVar
Submissions by phenotype
FZD6-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 13, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at