17-42190898-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032484.5(GHDC):c.1088G>A(p.Arg363His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000305 in 1,607,278 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R363L) has been classified as Uncertain significance.
Frequency
Consequence
NM_032484.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GHDC | NM_032484.5 | c.1088G>A | p.Arg363His | missense_variant | Exon 7 of 10 | ENST00000587427.6 | NP_115873.1 | |
GHDC | NM_001142623.2 | c.1088G>A | p.Arg363His | missense_variant | Exon 7 of 10 | NP_001136095.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000164 AC: 4AN: 244530Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132440
GnomAD4 exome AF: 0.0000309 AC: 45AN: 1455080Hom.: 0 Cov.: 32 AF XY: 0.0000304 AC XY: 22AN XY: 723866
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1088G>A (p.R363H) alteration is located in exon 7 (coding exon 5) of the GHDC gene. This alteration results from a G to A substitution at nucleotide position 1088, causing the arginine (R) at amino acid position 363 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