chr6-79823470-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000438797.3(LINC01621):n.233+9685T>C 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 0.899 in 152,192 control chromosomes in the GnomAD database, including 61,638 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
ENST00000438797.3 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01621 | ENST00000438797.3 | n.233+9685T>C | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC01621 | ENST00000669965.1 | n.232+9685T>C | intron_variant, non_coding_transcript_variant | ||||||
LINC01621 | ENST00000693479.1 | n.373+6193T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.900 AC: 136793AN: 152074Hom.: 61612 Cov.: 31
GnomAD4 genome AF: 0.899 AC: 136871AN: 152192Hom.: 61638 Cov.: 31 AF XY: 0.899 AC XY: 66911AN XY: 74422
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at