chr6-125392823-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000422227.2(ENSG00000226409):n.161-18502G>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 0.251 in 152,082 control chromosomes in the GnomAD database, including 4,968 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 |
---|---|---|---|---|---|---|---|
LOC102723341 | XR_428019.4 | n.159-18502G>C | intron_variant, non_coding_transcript_variant | ||||
LOC102723341 | XR_001744329.2 | n.424+15671G>C | intron_variant, non_coding_transcript_variant | ||||
LOC102723341 | XR_007059737.1 | n.287+15671G>C | intron_variant, non_coding_transcript_variant | ||||
LOC102723341 | XR_942952.3 | n.296-18502G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000422227.2 | n.161-18502G>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.251 AC: 38207AN: 151964Hom.: 4957 Cov.: 32
GnomAD4 genome AF: 0.251 AC: 38243AN: 152082Hom.: 4968 Cov.: 32 AF XY: 0.253 AC XY: 18844AN XY: 74356
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at