rs11894442
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000650395.1(MIR4432HG):n.265+9681A>G 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 0.509 in 151,972 control chromosomes in the GnomAD database, including 20,097 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 | UniProt |
---|---|---|---|---|---|---|---|
LOC124906010 | XM_047446573.1 | c.331+9389A>G | intron_variant | ||||
LOC124906010 | XR_007086328.1 | n.606+3570A>G | intron_variant, non_coding_transcript_variant | ||||
LOC124906010 | XR_007086329.1 | n.531+3570A>G | intron_variant, non_coding_transcript_variant | ||||
LOC124906010 | XR_007086331.1 | n.365+3570A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MIR4432HG | ENST00000650395.1 | n.265+9681A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.509 AC: 77315AN: 151852Hom.: 20069 Cov.: 32
GnomAD4 genome ? AF: 0.509 AC: 77393AN: 151972Hom.: 20097 Cov.: 32 AF XY: 0.511 AC XY: 37963AN XY: 74274
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at