rs80356510
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP2PP3_Strong
The NM_001457.4(FLNB):c.1088G>A(p.Gly363Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as not provided (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G363R) has been classified as Pathogenic.
Frequency
Consequence
NM_001457.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNB | NM_001457.4 | c.1088G>A | p.Gly363Glu | missense_variant | 7/46 | ENST00000295956.9 | NP_001448.2 | |
FLNB | NM_001164317.2 | c.1088G>A | p.Gly363Glu | missense_variant | 7/47 | NP_001157789.1 | ||
FLNB | NM_001164318.2 | c.1088G>A | p.Gly363Glu | missense_variant | 7/46 | NP_001157790.1 | ||
FLNB | NM_001164319.2 | c.1088G>A | p.Gly363Glu | missense_variant | 7/45 | NP_001157791.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLNB | ENST00000295956.9 | c.1088G>A | p.Gly363Glu | missense_variant | 7/46 | 1 | NM_001457.4 | ENSP00000295956.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Larsen syndrome Other:1
not provided, no classification provided | literature only | GeneReviews | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at