rs116609083
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_022552.5(DNMT3A):c.801C>T(p.Ser267=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00268 in 1,613,112 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. S267S) has been classified as Likely benign.
Frequency
Consequence
NM_022552.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNMT3A | NM_022552.5 | c.801C>T | p.Ser267= | synonymous_variant | 7/23 | ENST00000321117.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNMT3A | ENST00000321117.10 | c.801C>T | p.Ser267= | synonymous_variant | 7/23 | 1 | NM_022552.5 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.00240 AC: 365AN: 152138Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00249 AC: 620AN: 248854Hom.: 2 AF XY: 0.00239 AC XY: 322AN XY: 134714
GnomAD4 exome AF: 0.00271 AC: 3954AN: 1460858Hom.: 11 Cov.: 32 AF XY: 0.00257 AC XY: 1866AN XY: 726664
GnomAD4 genome ? AF: 0.00240 AC: 366AN: 152254Hom.: 1 Cov.: 32 AF XY: 0.00234 AC XY: 174AN XY: 74436
ClinVar
Submissions by phenotype
not provided Benign:4
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Oct 01, 2023 | DNMT3A: BP4, BP7, BS1, BS2 - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Feb 27, 2019 | - - |
Likely benign, no assertion criteria provided | clinical testing | Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | - | - - |
Tatton-Brown-Rahman overgrowth syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at