rs2254298
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000916(OXTR):c.922+6724C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.161 in 152088 control chromosomes in the gnomAD Genomes database, including 2310 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.16 ( 2310 hom., cov: 33)
Consequence
OXTR
NM_000916 intron
NM_000916 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.242
Links
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
?
GnomAd highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.3 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OXTR | NM_000916.4 | c.922+6724C>T | intron_variant | ENST00000316793.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OXTR | ENST00000316793.8 | c.922+6724C>T | intron_variant | 1 | NM_000916.4 | P1 | |||
CAV3 | ENST00000472766.1 | n.156-16935G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.161 AC: 24436AN: 152088Hom.: 2310 Cov.: 33
GnomAD3 genomes
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24436
AN:
152088
Hom.:
Cov.:
33
Gnomad AFR
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Asia WGS
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AC:
850
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at