7-105532312-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021930.6(RINT1):c.-4C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,284 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_021930.6 5_prime_UTR
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: 0.00000657 AC: 1AN: 152284Hom.: 0 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1433954Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 711442
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152284Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74402
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.-4C>T variant is located in the 5' untranslated region (5’ UTR) of the RINT1 gene. This variant results from a C to T substitution 4 bases upstream from the first translated codon. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at