rs7662551
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000668018.1(LINC00989):n.674-6744G>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 0.772 in 151,934 control chromosomes in the GnomAD database, including 45,956 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
ENST00000668018.1 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 |
---|---|---|---|---|---|---|---|
LOC107986294 | XR_007058155.1 | n.633-6744G>A | intron_variant, non_coding_transcript_variant | ||||
LOC107986294 | XR_007058156.1 | n.897-6744G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC00989 | ENST00000668018.1 | n.674-6744G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.772 AC: 117168AN: 151816Hom.: 45911 Cov.: 31
GnomAD4 genome ? AF: 0.772 AC: 117267AN: 151934Hom.: 45956 Cov.: 31 AF XY: 0.765 AC XY: 56836AN XY: 74250
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at