chr9-109137544-GC-TT
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014334.4(FRRS1L):c.792_793delGCinsAA(p.MetPro264IleThr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_014334.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRRS1L | ENST00000561981.5 | c.792_793delGCinsAA | p.MetPro264IleThr | missense_variant | 1 | NM_014334.4 | ENSP00000477141.2 | |||
FRRS1L | ENST00000644747.1 | n.*410_*411delGCinsAA | non_coding_transcript_exon_variant | Exon 4 of 4 | ENSP00000493964.1 | |||||
FRRS1L | ENST00000644747.1 | n.*410_*411delGCinsAA | 3_prime_UTR_variant | Exon 4 of 4 | ENSP00000493964.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Developmental and epileptic encephalopathy, 37 Uncertain:1
This variant, c.945_946delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the FRRS1L protein (p.Met315_Pro316delinsIleThr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with FRRS1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1307708). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.