2-36988807-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019024.3(HEATR5B):c.5750G>A(p.Arg1917His) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,613,834 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R1917C) has been classified as Uncertain significance.
Frequency
Consequence
NM_019024.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HEATR5B | ENST00000233099.6 | c.5750G>A | p.Arg1917His | missense_variant | Exon 35 of 36 | 1 | NM_019024.3 | ENSP00000233099.5 | ||
HEATR5B | ENST00000425467.5 | c.53G>A | p.Arg18His | missense_variant | Exon 1 of 2 | 3 | ENSP00000408222.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152036Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251380Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135872
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461798Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727206
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152036Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5750G>A (p.R1917H) alteration is located in exon 35 (coding exon 34) of the HEATR5B gene. This alteration results from a G to A substitution at nucleotide position 5750, causing the arginine (R) at amino acid position 1917 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