chr14-92651605-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024832.5(RIN3):c.556C>A(p.Pro186Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000775 in 1,549,124 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024832.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000467 AC: 7AN: 149974Hom.: 0 Cov.: 29
GnomAD4 exome AF: 0.00000357 AC: 5AN: 1399150Hom.: 0 Cov.: 34 AF XY: 0.00000576 AC XY: 4AN XY: 694130
GnomAD4 genome AF: 0.0000467 AC: 7AN: 149974Hom.: 0 Cov.: 29 AF XY: 0.0000683 AC XY: 5AN XY: 73246
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.556C>A (p.P186T) alteration is located in exon 6 (coding exon 6) of the RIN3 gene. This alteration results from a C to A substitution at nucleotide position 556, causing the proline (P) at amino acid position 186 to be replaced by a threonine (T). 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