rs6917644
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000706294.1(LINC01013):n.182+42374A>G 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 0.103 in 152,156 control chromosomes in the GnomAD database, including 895 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
ENST00000706294.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01013 | ENST00000706294.1 | n.182+42374A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01013 | ENST00000706326.1 | n.239+42374A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01013 | ENST00000706327.1 | n.559+40291A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.103 AC: 15673AN: 152038Hom.: 896 Cov.: 32
GnomAD4 genome AF: 0.103 AC: 15682AN: 152156Hom.: 895 Cov.: 32 AF XY: 0.0998 AC XY: 7424AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at