chr8-16993092-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_019851.3(FGF20):c.616G>A(p.Asp206Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00424 in 1,613,932 control chromosomes in the GnomAD database, including 215 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D206Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_019851.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGF20 | NM_019851.3 | c.616G>A | p.Asp206Asn | missense_variant | 3/3 | ENST00000180166.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF20 | ENST00000180166.6 | c.616G>A | p.Asp206Asn | missense_variant | 3/3 | 1 | NM_019851.3 | P1 | |
FGF20 | ENST00000519941.1 | c.322G>A | p.Asp108Asn | missense_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0219 AC: 3330AN: 152058Hom.: 110 Cov.: 32
GnomAD3 exomes AF: 0.00578 AC: 1452AN: 251328Hom.: 46 AF XY: 0.00437 AC XY: 594AN XY: 135842
GnomAD4 exome AF: 0.00240 AC: 3507AN: 1461756Hom.: 105 Cov.: 31 AF XY: 0.00207 AC XY: 1508AN XY: 727176
GnomAD4 genome AF: 0.0219 AC: 3334AN: 152176Hom.: 110 Cov.: 32 AF XY: 0.0213 AC XY: 1582AN XY: 74394
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at