rs373087529
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001458.5(FLNC):c.8070G>A(p.Arg2690=) 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. R2690R) 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 Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.8070G>A | p.Arg2690= | synonymous_variant | 48/48 | ENST00000325888.13 | |
FLNC-AS1 | NR_149055.1 | n.102+4110C>T | intron_variant, non_coding_transcript_variant | ||||
FLNC | NM_001127487.2 | c.7971G>A | p.Arg2657= | synonymous_variant | 47/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.8070G>A | p.Arg2690= | synonymous_variant | 48/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.7971G>A | p.Arg2657= | synonymous_variant | 47/47 | 1 | A1 | ||
FLNC-AS1 | ENST00000469965.1 | n.102+4110C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at