rs4504558
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_183366.1(LINC02932):n.244-21912A>G 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 0.406 in 151,930 control chromosomes in the GnomAD database, including 14,714 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_183366.1 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 |
---|---|---|---|---|---|---|---|
LINC02932 | NR_183366.1 | n.244-21912A>G | intron_variant, non_coding_transcript_variant | ||||
LINC02932 | NR_183367.1 | n.244-21912A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02932 | ENST00000418395.1 | n.182-21912A>G | intron_variant, non_coding_transcript_variant | 3 | |||||
ENST00000456952.1 | n.113-64066T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.406 AC: 61652AN: 151812Hom.: 14718 Cov.: 30
GnomAD4 genome ? AF: 0.406 AC: 61641AN: 151930Hom.: 14714 Cov.: 30 AF XY: 0.402 AC XY: 29854AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at