10-118365003-T-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000668223.1(LINC00867):n.469+7155T>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 0.427 in 152,094 control chromosomes in the GnomAD database, including 15,688 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
ENST00000668223.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00867 | ENST00000668223.1 | n.469+7155T>A | intron_variant, non_coding_transcript_variant | ||||||
LINC00867 | ENST00000415417.6 | n.720T>A | non_coding_transcript_exon_variant | 4/4 | 3 | ||||
LINC00867 | ENST00000453236.2 | n.921T>A | non_coding_transcript_exon_variant | 3/3 | 3 | ||||
LINC00867 | ENST00000657224.1 | n.707T>A | non_coding_transcript_exon_variant | 2/2 |
Frequencies
GnomAD3 genomes AF: 0.428 AC: 65020AN: 151960Hom.: 15697 Cov.: 32
GnomAD4 exome AF: 0.429 AC: 6AN: 14Hom.: 2 Cov.: 0 AF XY: 0.417 AC XY: 5AN XY: 12
GnomAD4 genome AF: 0.427 AC: 65010AN: 152080Hom.: 15686 Cov.: 32 AF XY: 0.433 AC XY: 32213AN XY: 74330
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at