chr16-67238414-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_013241.3(FHOD1):c.407G>A(p.Arg136His) variant causes a missense change. The variant allele was found at a frequency of 0.0000564 in 1,614,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013241.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|---|
FHOD1 | ENST00000258201.9 | c.407G>A | p.Arg136His | missense_variant | Exon 4 of 22 | 1 | NM_013241.3 | ENSP00000258201.4 | ||
SLC9A5 | ENST00000564704.5 | n.732C>T | non_coding_transcript_exon_variant | Exon 1 of 16 | 1 | |||||
FHOD1 | ENST00000561922.1 | n.431G>A | non_coding_transcript_exon_variant | Exon 4 of 13 | 2 | ENSP00000458085.1 | ||||
FHOD1 | ENST00000567752.5 | n.916G>A | non_coding_transcript_exon_variant | Exon 3 of 20 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000159 AC: 40AN: 250948Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135682
GnomAD4 exome AF: 0.0000554 AC: 81AN: 1461804Hom.: 0 Cov.: 33 AF XY: 0.0000633 AC XY: 46AN XY: 727194
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152278Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.407G>A (p.R136H) alteration is located in exon 4 (coding exon 4) of the FHOD1 gene. This alteration results from a G to A substitution at nucleotide position 407, causing the arginine (R) at amino acid position 136 to be replaced by a histidine (H). 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