ENST00000622774.2:c.432T>C
Variant summary
Our verdict is Likely benign. The variant received -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The ENST00000622774.2(FTCDNL1):c.432T>C(p.Phe144Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000439 in 683,220 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000622774.2 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FTCDNL1 | NM_001363886.2 | c.397+35T>C | intron_variant | Intron 4 of 4 | ENST00000420128.6 | NP_001350815.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151952Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000637 AC: 7AN: 109954 AF XY: 0.0000826 show subpopulations
GnomAD4 exome AF: 0.0000471 AC: 25AN: 531150Hom.: 0 Cov.: 0 AF XY: 0.0000590 AC XY: 17AN XY: 288218 show subpopulations
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152070Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74326 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:1
FTCDNL1: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at