rs1118997
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_135257.1(LOC105370473):n.139+11767C>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 0.189 in 151,980 control chromosomes in the GnomAD database, including 3,381 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_135257.1 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 |
---|---|---|---|---|---|---|---|
LOC105370473 | NR_135257.1 | n.139+11767C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000662197.1 | n.163+11767C>T | intron_variant, non_coding_transcript_variant | |||||||
ENST00000555433.1 | n.139+11767C>T | intron_variant, non_coding_transcript_variant | 2 | ||||||
ENST00000556228.1 | n.229+11265C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.189 AC: 28660AN: 151862Hom.: 3366 Cov.: 32
GnomAD4 genome ? AF: 0.189 AC: 28704AN: 151980Hom.: 3381 Cov.: 32 AF XY: 0.194 AC XY: 14426AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at