chr2-229388294-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_139072.4(DNER):āc.1826A>Gā(p.His609Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,458,716 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_139072.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNER | NM_139072.4 | c.1826A>G | p.His609Arg | missense_variant | 11/13 | ENST00000341772.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNER | ENST00000341772.5 | c.1826A>G | p.His609Arg | missense_variant | 11/13 | 1 | NM_139072.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 28
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1458716Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 2AN XY: 725696
GnomAD4 genome Cov.: 28
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.