NM_001300783.2:c.236C>T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP3BP4
The NM_001300783.2(PRR16):c.236C>T(p.Thr79Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000446 in 1,614,130 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_001300783.2 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: 0.0000854 AC: 13AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251364Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135844
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461844Hom.: 0 Cov.: 30 AF XY: 0.0000399 AC XY: 29AN XY: 727228
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.167C>T (p.T56M) alteration is located in exon 3 (coding exon 2) of the PRR16 gene. This alteration results from a C to T substitution at nucleotide position 167, causing the threonine (T) at amino acid position 56 to be replaced by a methionine (M). 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