rs35684
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_026829.1(LINC00852):n.584A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000891 in 153,846 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_026829.1 non_coding_transcript_exon
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 |
---|---|---|---|---|---|---|---|
LINC00852 | NR_026829.1 | n.584A>C | non_coding_transcript_exon_variant | 1/1 | |||
GHRLOS | NR_024145.2 | n.292-746A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00852 | ENST00000475197.1 | n.584A>C | non_coding_transcript_exon_variant | 1/1 | |||||
LINC00852 | ENST00000538717.1 | n.584A>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.000868 AC: 132AN: 152128Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00313 AC: 5AN: 1600Hom.: 0 Cov.: 0 AF XY: 0.00595 AC XY: 5AN XY: 840
GnomAD4 genome ? AF: 0.000867 AC: 132AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.00102 AC XY: 76AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at