rs7618373
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_109968.1(LINC01208):n.284-14545C>T 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 0.437 in 151,766 control chromosomes in the GnomAD database, including 15,220 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_109968.1 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 |
---|---|---|---|---|---|---|---|
LINC01208 | NR_109968.1 | n.284-14545C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01208 | ENST00000652470.1 | n.280+24825C>T | intron_variant, non_coding_transcript_variant | ||||||
LINC01208 | ENST00000434969.2 | n.788-14545C>T | intron_variant, non_coding_transcript_variant | 2 | |||||
LINC01208 | ENST00000657476.1 | n.893+7026C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.436 AC: 66188AN: 151646Hom.: 15195 Cov.: 31
GnomAD4 genome ? AF: 0.437 AC: 66273AN: 151766Hom.: 15220 Cov.: 31 AF XY: 0.434 AC XY: 32209AN XY: 74138
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at