17-65536247-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004655.4(AXIN2):c.2141+73G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000154 in 1,300,410 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
NM_004655.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AXIN2 | ENST00000307078.10 | c.2141+73G>C | intron_variant | Intron 8 of 10 | 1 | NM_004655.4 | ENSP00000302625.5 | |||
AXIN2 | ENST00000375702.5 | c.1946+73G>C | intron_variant | Intron 6 of 8 | 1 | ENSP00000364854.5 | ||||
AXIN2 | ENST00000618960.4 | c.1946+73G>C | intron_variant | Intron 7 of 9 | 5 | ENSP00000478916.1 | ||||
AXIN2 | ENST00000578251.1 | n.363+73G>C | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000154 AC: 2AN: 1300410Hom.: 0 AF XY: 0.00000155 AC XY: 1AN XY: 646388
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.