chr3-197773479-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032288.7(FYTTD1):āc.574C>Gā(p.Leu192Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000694 in 1,440,550 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L192F) has been classified as Uncertain significance.
Frequency
Consequence
NM_032288.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FYTTD1 | NM_032288.7 | c.574C>G | p.Leu192Val | missense_variant | Exon 5 of 9 | ENST00000241502.9 | NP_115664.2 | |
FYTTD1 | NM_001011537.3 | c.496C>G | p.Leu166Val | missense_variant | Exon 6 of 10 | NP_001011537.2 | ||
FYTTD1 | NR_027840.2 | n.1047C>G | non_coding_transcript_exon_variant | Exon 5 of 9 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1440550Hom.: 0 Cov.: 27 AF XY: 0.00000140 AC XY: 1AN XY: 716034
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.