3-58008665-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_001457.4(FLNB):āc.101A>Gā(p.Asn34Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000547 in 1,461,818 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001457.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNB | NM_001457.4 | c.101A>G | p.Asn34Ser | missense_variant | Exon 1 of 46 | ENST00000295956.9 | NP_001448.2 | |
FLNB | NM_001164317.2 | c.101A>G | p.Asn34Ser | missense_variant | Exon 1 of 47 | NP_001157789.1 | ||
FLNB | NM_001164318.2 | c.101A>G | p.Asn34Ser | missense_variant | Exon 1 of 46 | NP_001157790.1 | ||
FLNB | NM_001164319.2 | c.101A>G | p.Asn34Ser | missense_variant | Exon 1 of 45 | NP_001157791.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251332Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135894
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461818Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727220
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 34 of the FLNB protein (p.Asn34Ser). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with FLNB-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNB protein function with a negative predictive value of 95%. 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