rs573639761
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001109763.2(GSG1L):c.245C>T(p.Pro82Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000848 in 1,179,288 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. P82R) has been classified as Uncertain significance.
Frequency
Consequence
NM_001109763.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GSG1L | ENST00000447459.7 | c.245C>T | p.Pro82Leu | missense_variant | Exon 1 of 7 | 2 | NM_001109763.2 | ENSP00000394954.2 | ||
GSG1L | ENST00000395724.7 | c.245C>T | p.Pro82Leu | missense_variant | Exon 1 of 6 | 1 | ENSP00000379074.3 | |||
GSG1L | ENST00000562611.1 | n.8C>T | non_coding_transcript_exon_variant | Exon 1 of 7 | 3 | ENSP00000454942.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 8.48e-7 AC: 1AN: 1179288Hom.: 0 Cov.: 31 AF XY: 0.00000173 AC XY: 1AN XY: 576368
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.