rs3107646
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_148216.1(LOC105369147):n.470+25046C>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 0.153 in 152,052 control chromosomes in the GnomAD database, including 1,978 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
NR_148216.1 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 |
---|---|---|---|---|---|---|---|
LOC105369147 | NR_148216.1 | n.470+25046C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369147 | NR_148213.1 | n.579+4675C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369147 | NR_148214.1 | n.531-4831C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105369147 | NR_148215.1 | n.536-4831C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BAALC-AS1 | ENST00000499522.6 | n.71-4460C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.153 AC: 23316AN: 151934Hom.: 1977 Cov.: 32
GnomAD4 genome ? AF: 0.153 AC: 23321AN: 152052Hom.: 1978 Cov.: 32 AF XY: 0.157 AC XY: 11700AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at