10-43812552-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000659335.1(LINC00840):n.1025+15680G>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 0.356 in 151,910 control chromosomes in the GnomAD database, including 10,240 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
ENST00000659335.1 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 |
---|---|---|---|---|---|---|---|
LOC105378275 | XR_945906.4 | n.1026-5955G>A | intron_variant, non_coding_transcript_variant | ||||
LOC105378275 | XR_945907.2 | n.179-5955G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00840 | ENST00000659335.1 | n.1025+15680G>A | intron_variant, non_coding_transcript_variant | ||||||
LINC00840 | ENST00000666323.1 | n.1010+15680G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.355 AC: 53947AN: 151792Hom.: 10205 Cov.: 31
GnomAD4 genome AF: 0.356 AC: 54023AN: 151910Hom.: 10240 Cov.: 31 AF XY: 0.348 AC XY: 25855AN XY: 74236
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at