rs786205190
Variant summary
Our verdict is Pathogenic. Variant got 12 ACMG points: 12P and 0B. PVS1PM2PP5_Moderate
The NM_001110556.2(FLNA):c.3990_3991insTCCAGGACTGCACTCC(p.Val1331SerfsTer11) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (★). Synonymous variant affecting the same amino acid position (i.e. S1330S) has been classified as Likely benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001110556.2 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNA | NM_001110556.2 | c.3990_3991insTCCAGGACTGCACTCC | p.Val1331SerfsTer11 | frameshift_variant | 24/48 | ENST00000369850.10 | |
FLNA | NM_001456.4 | c.3990_3991insTCCAGGACTGCACTCC | p.Val1331SerfsTer11 | frameshift_variant | 24/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNA | ENST00000369850.10 | c.3990_3991insTCCAGGACTGCACTCC | p.Val1331SerfsTer11 | frameshift_variant | 24/48 | 1 | NM_001110556.2 |
Frequencies
GnomAD3 genomes Cov.: 25
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 25
ClinVar
Submissions by phenotype
Heterotopia, periventricular, X-linked dominant Pathogenic:1
Likely pathogenic, criteria provided, single submitter | clinical testing | Claritas Genomics | Apr 28, 2011 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at