rs2295199
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_038216.1(LINC01010):n.167-10374C>A 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 0.397 in 152,110 control chromosomes in the GnomAD database, including 13,020 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_038216.1 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 |
---|---|---|---|---|---|---|---|
LINC01010 | NR_038216.1 | n.167-10374C>A | intron_variant, non_coding_transcript_variant | ||||
CT69 | NR_125852.1 | n.934+86G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CT69 | ENST00000417483.5 | n.316+86G>T | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC01010 | ENST00000431422.3 | n.621-10374C>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.397 AC: 60305AN: 151976Hom.: 13013 Cov.: 32
GnomAD4 exome AF: 0.313 AC: 5AN: 16Hom.: 1 AF XY: 0.286 AC XY: 4AN XY: 14
GnomAD4 genome ? AF: 0.397 AC: 60311AN: 152094Hom.: 13019 Cov.: 32 AF XY: 0.399 AC XY: 29684AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at