3-8767476-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000916.4(OXTR):c.712G>A(p.Ala238Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.027 in 1,604,954 control chromosomes in the GnomAD database, including 697 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000916.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0196 AC: 2977AN: 152212Hom.: 36 Cov.: 33
GnomAD3 exomes AF: 0.0199 AC: 4521AN: 226688Hom.: 67 AF XY: 0.0201 AC XY: 2491AN XY: 124206
GnomAD4 exome AF: 0.0278 AC: 40344AN: 1452632Hom.: 661 Cov.: 30 AF XY: 0.0270 AC XY: 19507AN XY: 721884
GnomAD4 genome AF: 0.0195 AC: 2976AN: 152322Hom.: 36 Cov.: 33 AF XY: 0.0188 AC XY: 1397AN XY: 74488
ClinVar
Submissions by phenotype
OXTR-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at