7-128842673-G-C
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_001458.5(FLNC):c.2364G>C(p.Thr788=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000057 in 1,404,016 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. T788T) has been classified as Likely benign.
Frequency
Consequence
NM_001458.5 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.2364G>C | p.Thr788= | synonymous_variant | 15/48 | ENST00000325888.13 | |
FLNC | NM_001127487.2 | c.2364G>C | p.Thr788= | synonymous_variant | 15/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.2364G>C | p.Thr788= | synonymous_variant | 15/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.2364G>C | p.Thr788= | synonymous_variant | 15/47 | 1 | A1 | ||
FLNC | ENST00000388853.3 | n.480G>C | non_coding_transcript_exon_variant | 3/4 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000125 AC: 2AN: 159672Hom.: 0 AF XY: 0.0000118 AC XY: 1AN XY: 85022
GnomAD4 exome AF: 0.00000570 AC: 8AN: 1404016Hom.: 0 Cov.: 35 AF XY: 0.0000101 AC XY: 7AN XY: 692900
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Myofibrillar myopathy 5;C3279722:Distal myopathy with posterior leg and anterior hand involvement;C4310749:Hypertrophic cardiomyopathy 26;CN239310:Dilated Cardiomyopathy, Dominant Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 11, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at