X-5698923-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000422914.2(LINC03070):n.397+27007T>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 0.454 in 109,897 control chromosomes in the GnomAD database, including 8,483 homozygotes. There are 14,374 hemizygotes in GnomAD. 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
ENST00000422914.2 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 |
---|---|---|---|---|---|---|---|---|---|
LINC03070 | ENST00000422914.2 | n.397+27007T>C | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC03070 | ENST00000444185.5 | n.28+27007T>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.454 AC: 49866AN: 109840Hom.: 8489 Cov.: 22 AF XY: 0.446 AC XY: 14333AN XY: 32134
GnomAD4 genome AF: 0.454 AC: 49899AN: 109897Hom.: 8483 Cov.: 22 AF XY: 0.446 AC XY: 14374AN XY: 32201
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at