2-34405965-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000422558.1(LINC01320):n.475+21396C>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 0.0000395 in 151,968 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000422558.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 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 |
---|---|---|---|---|---|---|---|---|---|
LINC01320 | ENST00000422558.1 | n.475+21396C>A | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC01320 | ENST00000650021.1 | n.219+21396C>A | intron_variant, non_coding_transcript_variant | ||||||
LINC01320 | ENST00000654103.1 | n.531+6746C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151968Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151968Hom.: 0 Cov.: 32 AF XY: 0.0000809 AC XY: 6AN XY: 74198
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at