rs1011407
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650395.1(MIR4432HG):n.265+931T>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 0.0759 in 152,330 control chromosomes in the GnomAD database, including 593 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
Consequence
ENST00000650395.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC124906010 | XM_047446573.1 | c.331+639T>C | intron_variant | XP_047302529.1 | ||||
LOC124906010 | XM_047446574.1 | c.331+639T>C | intron_variant | XP_047302530.1 | ||||
LOC124906010 | XR_007086328.1 | n.422+639T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIR4432HG | ENST00000650395.1 | n.265+931T>C | intron_variant, non_coding_transcript_variant | |||||||
MIR4432HG | ENST00000686152.1 | n.260-919T>C | intron_variant, non_coding_transcript_variant | |||||||
MIR4432HG | ENST00000692549.1 | n.429+639T>C | intron_variant, non_coding_transcript_variant | |||||||
MIR4432HG | ENST00000702294.1 | n.410+648T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0760 AC: 11573AN: 152212Hom.: 592 Cov.: 32
GnomAD4 genome AF: 0.0759 AC: 11569AN: 152330Hom.: 593 Cov.: 32 AF XY: 0.0727 AC XY: 5414AN XY: 74492
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at