chr9-117803051-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_007061905.1(LOC105376244):n.2899G>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000329 in 151,844 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
XR_007061905.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105376244 | XR_007061905.1 | n.2899G>T | non_coding_transcript_exon_variant | 7/8 | |||
LOC105376244 | XR_007061906.1 | n.2316G>T | non_coding_transcript_exon_variant | 8/9 | |||
LOC105376244 | XR_007061907.1 | n.2146+35801G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000697639.1 | n.962+16226G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000329 AC: 5AN: 151844Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 0
GnomAD4 genome ? AF: 0.0000329 AC: 5AN: 151844Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74160
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at