rs767977714
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001458.5(FLNC):c.1176C>G(p.Ala392=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. 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. Synonymous variant affecting the same amino acid position (i.e. A392A) has been classified as Likely benign.
Frequency
Consequence
NM_001458.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.1176C>G | p.Ala392= | synonymous_variant | 7/48 | ENST00000325888.13 | |
FLNC | NM_001127487.2 | c.1176C>G | p.Ala392= | synonymous_variant | 7/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.1176C>G | p.Ala392= | synonymous_variant | 7/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.1176C>G | p.Ala392= | synonymous_variant | 7/47 | 1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 149940Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome Cov.: 34
GnomAD4 genome ? Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 149940Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73224
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at