rs375790348
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001362.4(DIO3):c.62C>T(p.Ser21Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000719 in 1,612,832 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001362.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000346 AC: 85AN: 245824Hom.: 1 AF XY: 0.000365 AC XY: 49AN XY: 134102
GnomAD4 exome AF: 0.000756 AC: 1104AN: 1460506Hom.: 1 Cov.: 31 AF XY: 0.000771 AC XY: 560AN XY: 726586
GnomAD4 genome AF: 0.000361 AC: 55AN: 152326Hom.: 0 Cov.: 33 AF XY: 0.000322 AC XY: 24AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.62C>T (p.S21L) alteration is located in exon 1 (coding exon 1) of the DIO3 gene. This alteration results from a C to T substitution at nucleotide position 62, causing the serine (S) at amino acid position 21 to be replaced by a leucine (L). 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