chr3-197776997-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032288.7(FYTTD1):c.727C>T(p.Pro243Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000163 in 1,597,994 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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.727C>T | p.Pro243Ser | missense_variant | Exon 7 of 9 | ENST00000241502.9 | NP_115664.2 | |
FYTTD1 | NM_001011537.3 | c.649C>T | p.Pro217Ser | missense_variant | Exon 8 of 10 | NP_001011537.2 | ||
FYTTD1 | NR_027840.2 | n.1200C>T | non_coding_transcript_exon_variant | Exon 7 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 151904Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000607 AC: 15AN: 246954Hom.: 0 AF XY: 0.0000600 AC XY: 8AN XY: 133304
GnomAD4 exome AF: 0.0000104 AC: 15AN: 1446090Hom.: 0 Cov.: 27 AF XY: 0.0000111 AC XY: 8AN XY: 719814
GnomAD4 genome AF: 0.0000724 AC: 11AN: 151904Hom.: 0 Cov.: 31 AF XY: 0.0000944 AC XY: 7AN XY: 74180
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.727C>T (p.P243S) alteration is located in exon 7 (coding exon 7) of the FYTTD1 gene. This alteration results from a C to T substitution at nucleotide position 727, causing the proline (P) at amino acid position 243 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at