rs2275959
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000519691.1(ENSG00000254290):n.2318C>T 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 0.451 in 388,260 control chromosomes in the GnomAD database, including 41,194 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
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 |
---|---|---|---|---|---|---|---|
LINC01605 | NR_170186.1 | n.779+1520C>T | intron_variant, non_coding_transcript_variant | ||||
LINC01605 | NR_170187.1 | n.779+1520C>T | intron_variant, non_coding_transcript_variant | ||||
LINC01605 | NR_170188.1 | n.779+1520C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000519691.1 | n.2318C>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.418 AC: 63589AN: 151962Hom.: 14176 Cov.: 33
GnomAD4 exome AF: 0.473 AC: 111631AN: 236180Hom.: 27014 Cov.: 0 AF XY: 0.476 AC XY: 62934AN XY: 132312
GnomAD4 genome ? AF: 0.418 AC: 63615AN: 152080Hom.: 14180 Cov.: 33 AF XY: 0.426 AC XY: 31677AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at