21-44249054-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_175867.3(DNMT3L):c.967G>A(p.Val323Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_175867.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNMT3L | ENST00000628202.3 | c.967G>A | p.Val323Met | missense_variant | Exon 11 of 12 | 1 | NM_175867.3 | ENSP00000486001.1 | ||
DNMT3L | ENST00000270172.7 | c.967G>A | p.Val323Met | missense_variant | Exon 11 of 12 | 1 | ENSP00000270172.3 | |||
DNMT3L | ENST00000436357.5 | n.351G>A | non_coding_transcript_exon_variant | Exon 3 of 4 | 3 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 exomes AF: 0.0000202 AC: 5AN: 247624Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 134050
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 0
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.967G>A (p.V323M) alteration is located in exon 11 (coding exon 10) of the DNMT3L gene. This alteration results from a G to A substitution at nucleotide position 967, causing the valine (V) at amino acid position 323 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at