chr21-44250887-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_175867.3(DNMT3L):c.832A>G(p.Arg278Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_175867.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNMT3L | NM_175867.3 | c.832A>G | p.Arg278Gly | missense_variant | 10/12 | ENST00000628202.3 | |
DNMT3L-AS1 | NR_135514.1 | n.75T>C | non_coding_transcript_exon_variant | 1/2 | |||
DNMT3L | NM_013369.4 | c.832A>G | p.Arg278Gly | missense_variant | 10/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNMT3L | ENST00000628202.3 | c.832A>G | p.Arg278Gly | missense_variant | 10/12 | 1 | NM_175867.3 | A2 | |
DNMT3L-AS1 | ENST00000442785.1 | n.75T>C | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 exomes AF: 0.210 AC: 52546AN: 249668Hom.: 6477 AF XY: 0.212 AC XY: 28707AN XY: 135290
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 0
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at