rs143873938
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001110556.2(FLNA):c.1582G>T(p.Val528Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000886 in 112,874 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V528M) has been classified as Likely benign.
Frequency
Consequence
NM_001110556.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.1582G>T | p.Val528Leu | missense_variant | 11/48 | ENST00000369850.10 | |
FLNA | NM_001456.4 | c.1582G>T | p.Val528Leu | missense_variant | 11/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.1582G>T | p.Val528Leu | missense_variant | 11/48 | 1 | NM_001110556.2 |
Frequencies
GnomAD3 genomes AF: 0.00000886 AC: 1AN: 112874Hom.: 0 Cov.: 24 AF XY: 0.0000286 AC XY: 1AN XY: 35014
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000886 AC: 1AN: 112874Hom.: 0 Cov.: 24 AF XY: 0.0000286 AC XY: 1AN XY: 35014
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at