rs201895675
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001458.5(FLNC):āc.7604C>Gā(p.Ser2535Trp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,614,128 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. S2535L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001458.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FLNC | NM_001458.5 | c.7604C>G | p.Ser2535Trp | missense_variant | 46/48 | ENST00000325888.13 | |
FLNC-AS1 | NR_149055.1 | n.103-3763G>C | intron_variant, non_coding_transcript_variant | ||||
FLNC | NM_001127487.2 | c.7505C>G | p.Ser2502Trp | missense_variant | 45/47 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FLNC | ENST00000325888.13 | c.7604C>G | p.Ser2535Trp | missense_variant | 46/48 | 1 | NM_001458.5 | P3 | |
FLNC | ENST00000346177.6 | c.7505C>G | p.Ser2502Trp | missense_variant | 45/47 | 1 | A1 | ||
FLNC-AS1 | ENST00000469965.1 | n.103-3763G>C | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461814Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727214
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152314Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74488
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at