rs10747783
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005726.6(TSFM):c.30T>A(p.Phe10Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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. F10F) has been classified as Benign.
Frequency
Consequence
NM_005726.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TSFM | NM_005726.6 | c.30T>A | p.Phe10Leu | missense_variant | 1/6 | ENST00000652027.2 | |
TSFM | NM_001172696.2 | c.30T>A | p.Phe10Leu | missense_variant | 1/7 | ||
TSFM | NM_001172697.2 | c.30T>A | p.Phe10Leu | missense_variant | 1/6 | ||
TSFM | NM_001172695.2 | c.30T>A | p.Phe10Leu | missense_variant | 1/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSFM | ENST00000652027.2 | c.30T>A | p.Phe10Leu | missense_variant | 1/6 | NM_005726.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1442500Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 715716
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at