chr20-5448343-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000600157.6(LINC00658):n.342+321A>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 0.0444 in 152,222 control chromosomes in the GnomAD database, including 231 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
ENST00000600157.6 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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 |
---|---|---|---|---|---|---|---|---|---|
LINC00658 | ENST00000600157.6 | n.342+321A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
ENST00000651499.1 | n.427+2079T>C | intron_variant, non_coding_transcript_variant | |||||||
ENST00000668553.1 | n.1280+41946T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0444 AC: 6758AN: 152110Hom.: 232 Cov.: 33
GnomAD4 genome ? AF: 0.0444 AC: 6755AN: 152222Hom.: 231 Cov.: 33 AF XY: 0.0427 AC XY: 3179AN XY: 74420
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at