9-73430347-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_001746729.1(LOC105376083):n.569A>C 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 0.00000659 in 151,852 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_001746729.1 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 |
---|---|---|---|---|---|---|---|
LOC105376083 | XR_001746729.1 | n.569A>C | non_coding_transcript_exon_variant | 1/7 | |||
LOC105376084 | XR_007061581.1 | n.349+1189T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105376084 | XR_929939.1 | n.329+1189T>G | intron_variant, non_coding_transcript_variant | ||||
LOC105376084 | XR_929941.2 | n.349+1189T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151852Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151852Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74180
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at