rs775448
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_110072.2(LOC101928002):n.565+1592C>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 0.32 in 152,008 control chromosomes in the GnomAD database, including 8,193 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_110072.2 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 |
---|---|---|---|---|---|---|---|
LOC101928002 | NR_110072.2 | n.565+1592C>T | intron_variant, non_coding_transcript_variant | ||||
LOC101928002 | NR_159971.1 | n.442-1059C>T | intron_variant, non_coding_transcript_variant | ||||
LOC101928002 | NR_159972.1 | n.441+1592C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000501387.6 | n.589+1592C>T | intron_variant, non_coding_transcript_variant | 1 | ||||||
ENST00000501300.1 | n.454-1059C>T | intron_variant, non_coding_transcript_variant | 5 | ||||||
ENST00000661191.1 | n.441+1592C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.320 AC: 48668AN: 151890Hom.: 8190 Cov.: 31
GnomAD4 genome ? AF: 0.320 AC: 48674AN: 152008Hom.: 8193 Cov.: 31 AF XY: 0.323 AC XY: 23992AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at