rs797045163
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PM1PM2PM5PP2PP3_ModeratePP5
The ENST00000369850.10(FLNA):c.622G>C(p.Gly208Arg) variant causes a missense, splice region 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. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G208C) has been classified as Likely pathogenic.
Frequency
Consequence
ENST00000369850.10 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.622G>C | p.Gly208Arg | missense_variant, splice_region_variant | 3/48 | ENST00000369850.10 | NP_001104026.1 | |
FLNA | NM_001456.4 | c.622G>C | p.Gly208Arg | missense_variant, splice_region_variant | 3/47 | NP_001447.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.622G>C | p.Gly208Arg | missense_variant, splice_region_variant | 3/48 | 1 | NM_001110556.2 | ENSP00000358866 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 01, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at