chr6-137863193-C-G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000763052.1(WAKMAR2):n.887G>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 0.188 in 152,164 control chromosomes in the GnomAD database, including 4,786 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
ENST00000763052.1 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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WAKMAR2 | NR_049793.1 | n.1056+1966G>C | intron_variant | Intron 3 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WAKMAR2 | ENST00000763052.1 | n.887G>C | non_coding_transcript_exon_variant | Exon 4 of 4 | ||||||
WAKMAR2 | ENST00000448942.5 | n.64-268G>C | intron_variant | Intron 1 of 3 | 5 | |||||
WAKMAR2 | ENST00000606998.2 | n.1056+1966G>C | intron_variant | Intron 3 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.188 AC: 28559AN: 152046Hom.: 4767 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.188 AC: 28627AN: 152164Hom.: 4786 Cov.: 32 AF XY: 0.182 AC XY: 13557AN XY: 74382 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at