chr6-131125651-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000690501.1(ENSG00000288977):n.27C>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 0.775 in 152,140 control chromosomes in the GnomAD database, including 46,414 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
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 |
---|---|---|---|---|---|---|---|
LOC102723445 | XR_428022.3 | n.524+4086G>C | intron_variant, non_coding_transcript_variant | ||||
AKAP7 | XM_017011509.2 | c.-116C>G | 5_prime_UTR_variant | 1/8 | |||
LOC102723445 | XR_942994.2 | n.524+4086G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000690501.1 | n.27C>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.775 AC: 117816AN: 152022Hom.: 46379 Cov.: 32
GnomAD4 genome ? AF: 0.775 AC: 117906AN: 152140Hom.: 46414 Cov.: 32 AF XY: 0.780 AC XY: 58048AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at