7-41708910-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000686185.1(ENSG00000289403):n.142G>C 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 0.000507 in 151,998 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
ENST00000686185.1 non_coding_transcript_exon
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INHBA-AS1 | NR_027118.2 | n.171-1688C>G | intron_variant | |||||
INHBA-AS1 | NR_027119.2 | n.171-1688C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INHBA-AS1 | ENST00000415848.6 | n.174-1688C>G | intron_variant | 1 | ||||||
INHBA-AS1 | ENST00000420821.2 | n.161-1688C>G | intron_variant | 1 | ||||||
ENSG00000289403 | ENST00000686185.1 | n.142G>C | non_coding_transcript_exon_variant | 1/2 |
Frequencies
GnomAD3 genomes AF: 0.000507 AC: 77AN: 151998Hom.: 0 Cov.: 33
GnomAD4 genome AF: 0.000507 AC: 77AN: 151998Hom.: 0 Cov.: 33 AF XY: 0.000458 AC XY: 34AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at