rs1799732
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The XR_948024.2(LOC105369501):n.912_913insC variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.80 ( 48687 hom., cov: 0)
Consequence
LOC105369501
XR_948024.2 non_coding_transcript_exon
XR_948024.2 non_coding_transcript_exon
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 1.45
Links
ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -16 ACMG points.
BP6
?
Variant 11-113475529-T-TG is Benign according to our data. Variant chr11-113475529-T-TG is described in ClinVar as [Benign]. Clinvar id is 1236510. Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
?
GnomAd highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.897 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105369501 | XR_948024.2 | n.912_913insC | non_coding_transcript_exon_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DRD2 | ENST00000540600.5 | n.34+128_34+129insC | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.801 AC: 117209AN: 146376Hom.: 48687 Cov.: 0
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GnomAD4 exome AF: 0.808 AC: 21AN: 26Hom.: 8 AF XY: 0.850 AC XY: 17AN XY: 20
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 14, 2018 | - - |
Dystonic disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Oct 30, 2022 | - - |
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at