3-69181262-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015123.3(FRMD4B):c.2488G>A(p.Glu830Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000515 in 1,613,168 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015123.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMD4B | ENST00000398540.8 | c.2488G>A | p.Glu830Lys | missense_variant | Exon 21 of 23 | 1 | NM_015123.3 | ENSP00000381549.3 | ||
FRMD4B | ENST00000478263.5 | c.1444G>A | p.Glu482Lys | missense_variant | Exon 11 of 13 | 1 | ENSP00000418682.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000156 AC: 39AN: 249222Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135206
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1460930Hom.: 0 Cov.: 37 AF XY: 0.0000619 AC XY: 45AN XY: 726834
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2488G>A (p.E830K) alteration is located in exon 21 (coding exon 21) of the FRMD4B gene. This alteration results from a G to A substitution at nucleotide position 2488, causing the glutamic acid (E) at amino acid position 830 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at