rs10089600
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_019851.3(FGF20):c.523C>G(p.Pro175Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000416 in 1,613,992 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts 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_019851.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGF20 | NM_019851.3 | c.523C>G | p.Pro175Ala | missense_variant | 3/3 | ENST00000180166.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF20 | ENST00000180166.6 | c.523C>G | p.Pro175Ala | missense_variant | 3/3 | 1 | NM_019851.3 | P1 | |
FGF20 | ENST00000519941.1 | c.229C>G | p.Pro77Ala | missense_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00209 AC: 318AN: 152010Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000549 AC: 138AN: 251424Hom.: 0 AF XY: 0.000397 AC XY: 54AN XY: 135872
GnomAD4 exome AF: 0.000241 AC: 353AN: 1461866Hom.: 3 Cov.: 31 AF XY: 0.000248 AC XY: 180AN XY: 727234
GnomAD4 genome ? AF: 0.00210 AC: 319AN: 152126Hom.: 1 Cov.: 32 AF XY: 0.00214 AC XY: 159AN XY: 74380
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 17, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at