chr7-128858365-G-T
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM2PP2PP3_Strong
The NM_001458.5(FLNC):c.8020G>T(p.Gly2674Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging 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. G2674S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001458.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.8020G>T | p.Gly2674Cys | missense_variant | 48/48 | ENST00000325888.13 | |
FLNC-AS1 | NR_149055.1 | n.102+4160C>A | intron_variant, non_coding_transcript_variant | ||||
FLNC | NM_001127487.2 | c.7921G>T | p.Gly2641Cys | missense_variant | 47/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.8020G>T | p.Gly2674Cys | missense_variant | 48/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.7921G>T | p.Gly2641Cys | missense_variant | 47/47 | 1 | A1 | ||
FLNC-AS1 | ENST00000469965.1 | n.102+4160C>A | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 26
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at