14-101562081-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001362.4(DIO3):āc.585C>Gā(p.Ile195Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,611,960 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 (ā ).
Frequency
Consequence
NM_001362.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152270Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000324 AC: 8AN: 247272Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134562
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1459572Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 726258
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152388Hom.: 0 Cov.: 33 AF XY: 0.0000268 AC XY: 2AN XY: 74526
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.585C>G (p.I195M) alteration is located in exon 1 (coding exon 1) of the DIO3 gene. This alteration results from a C to G substitution at nucleotide position 585, causing the isoleucine (I) at amino acid position 195 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