rs827528
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_003506.4(FZD6):āc.97A>Gā(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 (ā ). 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