rs142568031
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM1BP4_StrongBP6BS1BS2
The NM_001457.4(FLNB):c.107G>A(p.Arg36His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000418 in 1,614,156 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001457.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNB | NM_001457.4 | c.107G>A | p.Arg36His | missense_variant | Exon 1 of 46 | ENST00000295956.9 | NP_001448.2 | |
FLNB | NM_001164317.2 | c.107G>A | p.Arg36His | missense_variant | Exon 1 of 47 | NP_001157789.1 | ||
FLNB | NM_001164318.2 | c.107G>A | p.Arg36His | missense_variant | Exon 1 of 46 | NP_001157790.1 | ||
FLNB | NM_001164319.2 | c.107G>A | p.Arg36His | missense_variant | Exon 1 of 45 | NP_001157791.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00229 AC: 348AN: 152212Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000561 AC: 141AN: 251346Hom.: 0 AF XY: 0.000434 AC XY: 59AN XY: 135896
GnomAD4 exome AF: 0.000224 AC: 328AN: 1461826Hom.: 3 Cov.: 31 AF XY: 0.000195 AC XY: 142AN XY: 727228
GnomAD4 genome AF: 0.00228 AC: 347AN: 152330Hom.: 1 Cov.: 33 AF XY: 0.00211 AC XY: 157AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Uncertain:1
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FLNB-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Connective tissue disorder Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at