3-69180910-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_015123.3(FRMD4B):āc.2840C>Gā(p.Ser947Trp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000898 in 1,603,174 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_015123.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMD4B | ENST00000398540.8 | c.2840C>G | p.Ser947Trp | missense_variant | Exon 21 of 23 | 1 | NM_015123.3 | ENSP00000381549.3 | ||
FRMD4B | ENST00000478263.5 | c.1796C>G | p.Ser599Trp | missense_variant | Exon 11 of 13 | 1 | ENSP00000418682.1 |
Frequencies
GnomAD3 genomes AF: 0.000467 AC: 71AN: 152050Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000126 AC: 31AN: 245344Hom.: 0 AF XY: 0.000113 AC XY: 15AN XY: 133070
GnomAD4 exome AF: 0.0000503 AC: 73AN: 1451006Hom.: 0 Cov.: 32 AF XY: 0.0000430 AC XY: 31AN XY: 720548
GnomAD4 genome AF: 0.000467 AC: 71AN: 152168Hom.: 0 Cov.: 31 AF XY: 0.000565 AC XY: 42AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at