rs754812742
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002016.2(FLG):c.3905C>T(p.Ser1302Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,850 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002016.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FLG | NM_002016.2 | c.3905C>T | p.Ser1302Leu | missense_variant | 3/3 | ENST00000368799.2 | NP_002007.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FLG | ENST00000368799.2 | c.3905C>T | p.Ser1302Leu | missense_variant | 3/3 | 1 | NM_002016.2 | ENSP00000357789 | P1 | |
FLG-AS1 | ENST00000653548.1 | n.390-21602G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151886Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251456Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135906
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461846Hom.: 0 Cov.: 99 AF XY: 0.0000124 AC XY: 9AN XY: 727220
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at