rs11952762
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NR_134249.1(DMXL1-DT):n.285+221T>C variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0305 in 152,298 control chromosomes in the GnomAD database, including 90 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 0.031 ( 90 hom., cov: 32)
Failed GnomAD Quality Control
Consequence
DMXL1-DT
NR_134249.1 intron, non_coding_transcript
NR_134249.1 intron, non_coding_transcript
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.105
Genes affected
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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).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0305 (4648/152298) while in subpopulation NFE AF= 0.0478 (3249/68032). AF 95% confidence interval is 0.0464. There are 90 homozygotes in gnomad4. There are 2084 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 90 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMXL1-DT | NR_134249.1 | n.285+221T>C | intron_variant, non_coding_transcript_variant | ||||
DMXL1-DT | NR_134250.1 | n.249+221T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMXL1-DT | ENST00000504820.2 | n.261+221T>C | intron_variant, non_coding_transcript_variant | 4 | |||||
DMXL1-DT | ENST00000506486.5 | n.292+221T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0306 AC: 4650AN: 152180Hom.: 90 Cov.: 32
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0305 AC: 4648AN: 152298Hom.: 90 Cov.: 32 AF XY: 0.0280 AC XY: 2084AN XY: 74460
GnomAD4 genome
?
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at