19-39507097-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_203486.3(DLL3):c.1152G>T(p.Ala384Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000719 in 1,391,248 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_203486.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DLL3 | ENST00000356433.10 | c.1152G>T | p.Ala384Ala | synonymous_variant | Exon 7 of 9 | 2 | NM_203486.3 | ENSP00000348810.4 | ||
DLL3 | ENST00000205143.4 | c.1152G>T | p.Ala384Ala | synonymous_variant | Exon 7 of 8 | 1 | ENSP00000205143.3 | |||
DLL3 | ENST00000596614.5 | c.468G>T | p.Ala156Ala | synonymous_variant | Exon 4 of 4 | 2 | ENSP00000471688.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 7.19e-7 AC: 1AN: 1391248Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 687684
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at