chr9-68614263-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000413269.3(TMEM252-DT):n.461-11378A>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 0.611 in 151,848 control chromosomes in the GnomAD database, including 28,815 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
ENST00000413269.3 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 |
---|---|---|---|---|---|---|---|
TMEM252-DT | XR_007061564.1 | n.1662-18772A>G | intron_variant, non_coding_transcript_variant | ||||
TMEM252-DT | XR_001746701.3 | n.515-11378A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM252-DT | ENST00000413269.3 | n.461-11378A>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.611 AC: 92721AN: 151730Hom.: 28811 Cov.: 31
GnomAD4 genome ? AF: 0.611 AC: 92769AN: 151848Hom.: 28815 Cov.: 31 AF XY: 0.610 AC XY: 45271AN XY: 74190
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at