rs2249128
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_001458.5(FLNC):c.4404T>A(p.Asp1468Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D1468N) has been classified as Likely benign.
Frequency
Consequence
NM_001458.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.4404T>A | p.Asp1468Glu | missense_variant | 25/48 | ENST00000325888.13 | |
FLNC | NM_001127487.2 | c.4404T>A | p.Asp1468Glu | missense_variant | 25/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.4404T>A | p.Asp1468Glu | missense_variant | 25/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.4404T>A | p.Asp1468Glu | missense_variant | 25/47 | 1 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 35
GnomAD4 exome Cov.: 77
GnomAD4 genome ? Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at