3-58123435-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_001457.4(FLNB):c.3469G>T(p.Asp1157Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,459,882 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D1157N) has been classified as Benign.
Frequency
Consequence
NM_001457.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNB | NM_001457.4 | c.3469G>T | p.Asp1157Tyr | missense_variant | Exon 21 of 46 | ENST00000295956.9 | NP_001448.2 | |
FLNB | NM_001164317.2 | c.3469G>T | p.Asp1157Tyr | missense_variant | Exon 21 of 47 | NP_001157789.1 | ||
FLNB | NM_001164318.2 | c.3469G>T | p.Asp1157Tyr | missense_variant | Exon 21 of 46 | NP_001157790.1 | ||
FLNB | NM_001164319.2 | c.3469G>T | p.Asp1157Tyr | missense_variant | Exon 21 of 45 | NP_001157791.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459882Hom.: 0 Cov.: 46 AF XY: 0.00000413 AC XY: 3AN XY: 725856
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at