14-100734308-T-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003836.7(DLK1):c.564T>A(p.Ile188Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. I188I) has been classified as Benign.
Frequency
Consequence
NM_003836.7 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 |
---|---|---|---|---|---|---|---|---|---|---|
DLK1 | ENST00000341267.9 | c.564T>A | p.Ile188Ile | synonymous_variant | Exon 5 of 5 | 1 | NM_003836.7 | ENSP00000340292.4 | ||
DLK1 | ENST00000331224.10 | c.564T>A | p.Ile188Ile | synonymous_variant | Exon 5 of 6 | 1 | ENSP00000331081.6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 94
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at