rs749661277
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_176791.4(GTSF1L):c.440G>T(p.Gly147Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,456,916 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. 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. G147A) has been classified as Uncertain significance.
Frequency
Consequence
NM_176791.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GTSF1L | NM_176791.4 | c.440G>T | p.Gly147Val | missense_variant | Exon 1 of 1 | ENST00000373003.2 | NP_789761.1 | |
GTSF1L | NM_001008901.2 | c.365G>T | p.Gly122Val | missense_variant | Exon 2 of 2 | NP_001008901.1 | ||
GTSF1L | XM_005260298.5 | c.305G>T | p.Gly102Val | missense_variant | Exon 2 of 2 | XP_005260355.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GTSF1L | ENST00000373003.2 | c.440G>T | p.Gly147Val | missense_variant | Exon 1 of 1 | 6 | NM_176791.4 | ENSP00000362094.1 | ||
GTSF1L | ENST00000373005.2 | c.365G>T | p.Gly122Val | missense_variant | Exon 2 of 2 | 3 | ENSP00000362096.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1456916Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 724364
GnomAD4 genome Cov.: 32
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.