rs140234240
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031844.3(HNRNPU):āc.2166A>Gā(p.Gly722=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,611,160 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. Synonymous variant affecting the same amino acid position (i.e. G722G) has been classified as Likely benign.
Frequency
Consequence
NM_031844.3 splice_region, synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HNRNPU | NM_031844.3 | c.2166A>G | p.Gly722= | splice_region_variant, synonymous_variant | 11/14 | ENST00000640218.2 | NP_114032.2 | |
HNRNPU | NM_004501.3 | c.2109A>G | p.Gly703= | splice_region_variant, synonymous_variant | 11/14 | NP_004492.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HNRNPU | ENST00000640218.2 | c.2166A>G | p.Gly722= | splice_region_variant, synonymous_variant | 11/14 | 1 | NM_031844.3 | ENSP00000491215 | P3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152010Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459150Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725658
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152010Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74236
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at