chr18-36355612-G-A
Variant summary
Our verdict is Likely benign. The variant received -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001281740.3(FHOD3):c.239G>A(p.Arg80Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000359 in 1,614,120 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R80W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001281740.3 missense
Scores
Clinical Significance
Conservation
Publications
- cardiomyopathy, familial hypertrophic, 28Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae), Ambry Genetics
- hypertrophic cardiomyopathyInheritance: AD Classification: MODERATE Submitted by: Illumina
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ACMG classification
Our verdict: Likely_benign. The variant received -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FHOD3 | ENST00000590592.6 | c.239G>A | p.Arg80Gln | missense_variant | Exon 2 of 29 | 1 | NM_001281740.3 | ENSP00000466937.1 | ||
FHOD3 | ENST00000257209.8 | c.239G>A | p.Arg80Gln | missense_variant | Exon 2 of 25 | 1 | ENSP00000257209.3 | |||
FHOD3 | ENST00000359247.8 | c.239G>A | p.Arg80Gln | missense_variant | Exon 2 of 24 | 1 | ENSP00000352186.3 | |||
FHOD3 | ENST00000589114.5 | n.358G>A | non_coding_transcript_exon_variant | Exon 2 of 14 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152172Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000103 AC: 26AN: 251372 AF XY: 0.0000810 show subpopulations
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1461830Hom.: 1 Cov.: 30 AF XY: 0.0000426 AC XY: 31AN XY: 727226 show subpopulations
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152290Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74472 show subpopulations
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.239G>A (p.R80Q) alteration is located in exon 2 (coding exon 2) of the FHOD3 gene. This alteration results from a G to A substitution at nucleotide position 239, causing the arginine (R) at amino acid position 80 to be replaced by a glutamine (Q). 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