3-58008606-G-GA
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_001457.4(FLNB):c.44dupA(p.Lys16GlufsTer75) variant causes a frameshift 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 Pathogenic (★).
Frequency
Consequence
NM_001457.4 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNB | NM_001457.4 | c.44dupA | p.Lys16GlufsTer75 | frameshift_variant | Exon 1 of 46 | ENST00000295956.9 | NP_001448.2 | |
FLNB | NM_001164317.2 | c.44dupA | p.Lys16GlufsTer75 | frameshift_variant | Exon 1 of 47 | NP_001157789.1 | ||
FLNB | NM_001164318.2 | c.44dupA | p.Lys16GlufsTer75 | frameshift_variant | Exon 1 of 46 | NP_001157790.1 | ||
FLNB | NM_001164319.2 | c.44dupA | p.Lys16GlufsTer75 | frameshift_variant | Exon 1 of 45 | NP_001157791.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Pathogenic:1
This variant has not been reported in the literature in individuals affected with FLNB-related conditions. This sequence change creates a premature translational stop signal (p.Lys16Glufs*75) in the FLNB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNB are known to be pathogenic (PMID: 14991055). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.