3-99848807-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001387850.1(FILIP1L):c.2869G>T(p.Val957Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001387850.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FILIP1L | ENST00000477258.2 | c.2869G>T | p.Val957Leu | missense_variant | Exon 5 of 6 | 2 | NM_001387850.1 | ENSP00000417617.2 | ||
CMSS1 | ENST00000421999.8 | c.64+30764C>A | intron_variant | Intron 1 of 9 | 1 | NM_032359.4 | ENSP00000410396.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2869G>T (p.V957L) alteration is located in exon 5 (coding exon 4) of the FILIP1L gene. This alteration results from a G to T substitution at nucleotide position 2869, causing the valine (V) at amino acid position 957 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
Publications
No publications associated with this variant yet.