3-10290110-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016362.5(GHRL):c.71G>C(p.Gly24Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000428 in 1,613,008 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016362.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000895 AC: 22AN: 245766Hom.: 0 AF XY: 0.0000828 AC XY: 11AN XY: 132852
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1460852Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 18AN XY: 726664
GnomAD4 genome AF: 0.000197 AC: 30AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.000296 AC XY: 22AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.71G>C (p.G24A) alteration is located in exon 2 (coding exon 1) of the GHRL gene. This alteration results from a G to C substitution at nucleotide position 71, causing the glycine (G) at amino acid position 24 to be replaced by an alanine (A). 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