rs11202711
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001031709.3(RNLS):c.876+78T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000235 in 1,278,994 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
NM_001031709.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNLS | ENST00000331772.9 | c.876+78T>G | intron_variant | Intron 6 of 6 | 1 | NM_001031709.3 | ENSP00000332530.4 | |||
RNLS | ENST00000371947.7 | c.876+78T>G | intron_variant | Intron 6 of 6 | 2 | ENSP00000361015.3 | ||||
RNLS | ENST00000466945.5 | n.*125T>G | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000235 AC: 3AN: 1278994Hom.: 0 AF XY: 0.00000471 AC XY: 3AN XY: 637284
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.