chr10-43912449-T-G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000446107.2(LINC00841):n.60T>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.59 in 152,212 control chromosomes in the GnomAD database, including 26,639 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
ENST00000446107.2 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC00841 | ENST00000446107.2 | n.60T>G | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | |||||
LINC00841 | ENST00000826345.1 | n.40T>G | non_coding_transcript_exon_variant | Exon 1 of 3 | ||||||
LINC00841 | ENST00000826346.1 | n.38T>G | non_coding_transcript_exon_variant | Exon 1 of 5 |
Frequencies
GnomAD3 genomes AF: 0.590 AC: 89623AN: 151834Hom.: 26569 Cov.: 31 show subpopulations
GnomAD4 exome AF: 0.641 AC: 168AN: 262Hom.: 53 Cov.: 0 AF XY: 0.644 AC XY: 112AN XY: 174 show subpopulations
GnomAD4 genome AF: 0.590 AC: 89667AN: 151950Hom.: 26586 Cov.: 31 AF XY: 0.595 AC XY: 44192AN XY: 74250 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at