rs200233856
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001458.5(FLNC):c.5375C>A(p.Ala1792Glu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. A1792V) 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.5375C>A | p.Ala1792Glu | missense_variant | 32/48 | ENST00000325888.13 | |
FLNC-AS1 | NR_149055.1 | n.316-55G>T | intron_variant, non_coding_transcript_variant | ||||
FLNC | NM_001127487.2 | c.5276C>A | p.Ala1759Glu | missense_variant | 31/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.5375C>A | p.Ala1792Glu | missense_variant | 32/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.5276C>A | p.Ala1759Glu | missense_variant | 31/47 | 1 | A1 | ||
FLNC-AS1 | ENST00000469965.1 | n.316-55G>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249226Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135222
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at