rs827528
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003506.4(FZD6):c.97A>G(p.Met33Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.244 in 1,606,408 control chromosomes in the GnomAD database, including 50,107 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003506.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FZD6 | NM_003506.4 | c.97A>G | p.Met33Val | missense_variant | 2/7 | ENST00000358755.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FZD6 | ENST00000358755.5 | c.97A>G | p.Met33Val | missense_variant | 2/7 | 1 | NM_003506.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.231 AC: 35134AN: 151962Hom.: 4289 Cov.: 31
GnomAD3 exomes AF: 0.217 AC: 54480AN: 251446Hom.: 6794 AF XY: 0.223 AC XY: 30316AN XY: 135894
GnomAD4 exome AF: 0.245 AC: 356430AN: 1454328Hom.: 45822 Cov.: 30 AF XY: 0.245 AC XY: 177311AN XY: 724002
GnomAD4 genome ? AF: 0.231 AC: 35156AN: 152080Hom.: 4285 Cov.: 31 AF XY: 0.227 AC XY: 16886AN XY: 74350
ClinVar
Submissions by phenotype
Nonsyndromic congenital nail disorder 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Aug 10, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at