chr19-39507097-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.Ala384=) 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. Synonymous variant affecting the same amino acid position (i.e. A384A) has been classified as Benign.
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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DLL3 | NM_203486.3 | c.1152G>T | p.Ala384= | synonymous_variant | 7/9 | ENST00000356433.10 | |
DLL3 | NM_016941.4 | c.1152G>T | p.Ala384= | synonymous_variant | 7/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DLL3 | ENST00000356433.10 | c.1152G>T | p.Ala384= | synonymous_variant | 7/9 | 2 | NM_203486.3 | P1 | |
DLL3 | ENST00000205143.4 | c.1152G>T | p.Ala384= | synonymous_variant | 7/8 | 1 | |||
DLL3 | ENST00000596614.5 | c.468G>T | p.Ala156= | synonymous_variant | 4/4 | 2 |
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