rs6572449
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_148361.1(TRD-AS1):n.225+49313A>T 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 0.0000533 in 150,222 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
NR_148361.1 intron, non_coding_transcript
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 |
---|---|---|---|---|---|---|---|
TRD-AS1 | NR_148361.1 | n.225+49313A>T | intron_variant, non_coding_transcript_variant | ||||
TRD-AS1 | NR_148362.1 | n.88+738A>T | intron_variant, non_coding_transcript_variant | ||||
TRD-AS1 | NR_148363.1 | n.88+738A>T | intron_variant, non_coding_transcript_variant | ||||
TRD-AS1 | NR_148364.1 | n.88+738A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TRD-AS1 | ENST00000656379.1 | n.69+738A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000533 AC: 8AN: 150104Hom.: 0 Cov.: 25
GnomAD4 genome ? AF: 0.0000533 AC: 8AN: 150222Hom.: 0 Cov.: 25 AF XY: 0.0000818 AC XY: 6AN XY: 73342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at