2-237567026-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015893.1(PRLH):c.115C>G(p.Pro39Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000155 in 1,613,980 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015893.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152256Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249256Hom.: 1 AF XY: 0.0000445 AC XY: 6AN XY: 134910
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461724Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727182
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115C>G (p.P39A) alteration is located in exon 2 (coding exon 2) of the PRLH gene. This alteration results from a C to G substitution at nucleotide position 115, causing the proline (P) at amino acid position 39 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