chr18-64130436-A-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NR_027245.1(LINC00305):n.252+18339T>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 0.209 in 152,054 control chromosomes in the GnomAD database, including 4,188 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
NR_027245.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC00305 | NR_027245.1 | n.252+18339T>A | intron_variant, non_coding_transcript_variant | ||||
LINC01924 | NR_033881.1 | n.200+2997A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01924 | ENST00000589376.1 | n.200+2997A>T | intron_variant, non_coding_transcript_variant | 1 | |||||
LINC00305 | ENST00000666468.1 | n.314+18339T>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.209 AC: 31765AN: 151936Hom.: 4186 Cov.: 32
GnomAD4 genome AF: 0.209 AC: 31751AN: 152054Hom.: 4188 Cov.: 32 AF XY: 0.211 AC XY: 15662AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at