6-168059165-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024919.6(FRMD1):āc.1366C>Gā(p.Gln456Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.897 in 1,586,290 control chromosomes in the GnomAD database, including 638,635 homozygotes. 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_024919.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FRMD1 | NM_024919.6 | c.1366C>G | p.Gln456Glu | missense_variant | 10/11 | ENST00000283309.11 | NP_079195.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMD1 | ENST00000283309.11 | c.1366C>G | p.Gln456Glu | missense_variant | 10/11 | 1 | NM_024919.6 | ENSP00000283309.6 |
Frequencies
GnomAD3 genomes AF: 0.882 AC: 134153AN: 152028Hom.: 59230 Cov.: 32
GnomAD3 exomes AF: 0.869 AC: 182724AN: 210202Hom.: 79735 AF XY: 0.874 AC XY: 99466AN XY: 113768
GnomAD4 exome AF: 0.898 AC: 1288335AN: 1434146Hom.: 579362 Cov.: 51 AF XY: 0.898 AC XY: 639055AN XY: 711476
GnomAD4 genome AF: 0.882 AC: 134251AN: 152144Hom.: 59273 Cov.: 32 AF XY: 0.883 AC XY: 65661AN XY: 74374
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at