7-2242161-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_013393.3(MRM2):c.8+1G>A variant causes a splice donor, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000696 in 1,436,820 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_013393.3 splice_donor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRM2 | ENST00000242257.14 | c.8+1G>A | splice_donor_variant, intron_variant | Intron 1 of 2 | 1 | NM_013393.3 | ENSP00000242257.8 | |||
ENSG00000286192 | ENST00000651235.1 | n.8+1G>A | splice_donor_variant, intron_variant | Intron 1 of 23 | ENSP00000498895.1 | |||||
NUDT1 | ENST00000356714.6 | c.-108C>T | upstream_gene_variant | 1 | NM_002452.4 | ENSP00000349148.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.96e-7 AC: 1AN: 1436820Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 714264
GnomAD4 genome Cov.: 32
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.