chr1-172659335-CACCACCACCACCGCCACCGCCACCACT-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000639.3(FASLG):c.141_167del(p.Pro57_Pro65del) variant causes a inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000754 in 1,459,070 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P45P) has been classified as Likely benign.
Frequency
Consequence
NM_000639.3 inframe_deletion
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 |
---|---|---|---|---|---|---|---|
FASLG | NM_000639.3 | c.141_167del | p.Pro57_Pro65del | inframe_deletion | 1/4 | ENST00000367721.3 | |
FASLG | NM_001302746.2 | c.141_167del | p.Pro57_Pro65del | inframe_deletion | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FASLG | ENST00000367721.3 | c.141_167del | p.Pro57_Pro65del | inframe_deletion | 1/4 | 1 | NM_000639.3 | P1 | |
FASLG | ENST00000340030.4 | c.141_167del | p.Pro57_Pro65del | inframe_deletion | 1/3 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000812 AC: 2AN: 246314Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133482
GnomAD4 exome AF: 0.00000754 AC: 11AN: 1459070Hom.: 0 AF XY: 0.00000413 AC XY: 3AN XY: 725686
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
FASLG-related disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 05, 2024 | The FASLG c.141_167del27 variant is predicted to result in an in-frame deletion (p.Leu54_Pro62del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at