chr8-22046108-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_003867.4(FGF17):c.73-6G>A variant causes a splice region, splice polypyrimidine tract, intron change. The variant allele was found at a frequency of 0.0000137 in 1,461,786 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_003867.4 splice_region, splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
FGF17 | NM_003867.4 | c.73-6G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000359441.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF17 | ENST00000359441.4 | c.73-6G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_003867.4 | P4 | |||
FGF17 | ENST00000518533.5 | c.73-39G>A | intron_variant | 1 | A1 | ||||
FGF17 | ENST00000524314.1 | n.1437G>A | non_coding_transcript_exon_variant | 1/3 | 2 | ||||
FGF17 | ENST00000521709.1 | n.451-39G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251264Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135876
GnomAD4 exome AF: 0.0000137 AC: 20AN: 1461786Hom.: 0 Cov.: 33 AF XY: 0.0000151 AC XY: 11AN XY: 727198
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 02, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at