rs1436599621
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001130823.3(DNMT1):c.3840C>T(p.Leu1280=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. L1280L) has been classified as Likely benign.
Frequency
Consequence
NM_001130823.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNMT1 | NM_001130823.3 | c.3840C>T | p.Leu1280= | synonymous_variant | 34/41 | ENST00000359526.9 | |
DNMT1 | NM_001318730.2 | c.3792C>T | p.Leu1264= | synonymous_variant | 33/40 | ||
DNMT1 | NM_001379.4 | c.3792C>T | p.Leu1264= | synonymous_variant | 33/40 | ||
DNMT1 | NM_001318731.2 | c.3477C>T | p.Leu1159= | synonymous_variant | 34/41 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNMT1 | ENST00000359526.9 | c.3840C>T | p.Leu1280= | synonymous_variant | 34/41 | 1 | NM_001130823.3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at