rs6958639
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000490162.3(LINC02577):n.184-3593G>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 0.263 in 152,122 control chromosomes in the GnomAD database, including 5,703 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
ENST00000490162.3 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 |
---|---|---|---|---|---|---|---|
LINC02577 | NR_170302.1 | n.160-3593G>A | intron_variant, non_coding_transcript_variant | ||||
LINC02577 | NR_170303.1 | n.160-3593G>A | intron_variant, non_coding_transcript_variant | ||||
LINC02577 | NR_170304.1 | n.160-3593G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02577 | ENST00000490162.3 | n.184-3593G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.263 AC: 39964AN: 152004Hom.: 5707 Cov.: 32
GnomAD4 genome AF: 0.263 AC: 39968AN: 152122Hom.: 5703 Cov.: 32 AF XY: 0.254 AC XY: 18880AN XY: 74368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at