7-151079902-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_006712.5(FASTK):c.103A>T(p.Met35Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000232 in 1,591,674 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006712.5 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FASTK | NM_006712.5 | c.103A>T | p.Met35Leu | missense_variant | 2/10 | ENST00000297532.11 | NP_006703.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FASTK | ENST00000297532.11 | c.103A>T | p.Met35Leu | missense_variant | 2/10 | 1 | NM_006712.5 | ENSP00000297532 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152056Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000307 AC: 7AN: 228370Hom.: 0 AF XY: 0.0000485 AC XY: 6AN XY: 123768
GnomAD4 exome AF: 0.0000250 AC: 36AN: 1439618Hom.: 0 Cov.: 31 AF XY: 0.0000407 AC XY: 29AN XY: 712004
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152056Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2024 | The c.103A>T (p.M35L) alteration is located in exon 2 (coding exon 2) of the FASTK gene. This alteration results from a A to T substitution at nucleotide position 103, causing the methionine (M) at amino acid position 35 to be replaced by a leucine (L). 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