rs370444194
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_005247.4(FGF3):c.420G>T(p.Thr140=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,458,122 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T140T) has been classified as Likely benign.
Frequency
Consequence
NM_005247.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGF3 | NM_005247.4 | c.420G>T | p.Thr140= | synonymous_variant | 3/3 | ENST00000334134.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF3 | ENST00000334134.4 | c.420G>T | p.Thr140= | synonymous_variant | 3/3 | 1 | NM_005247.4 | P1 | |
FGF3 | ENST00000646078.1 | n.267G>T | non_coding_transcript_exon_variant | 3/3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248284Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134952
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1458122Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 724882
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at