1-3069287-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_022114.4(PRDM16):c.28C>T(p.Leu10=) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000715 in 1,398,958 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. L10L) has been classified as Likely benign.
Frequency
Consequence
NM_022114.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRDM16 | NM_022114.4 | c.28C>T | p.Leu10= | synonymous_variant | 1/17 | ENST00000270722.10 | |
LOC124903827 | XM_047436614.1 | c.1651-316G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRDM16 | ENST00000270722.10 | c.28C>T | p.Leu10= | synonymous_variant | 1/17 | 1 | NM_022114.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 29
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1398958Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 695298
GnomAD4 genome ? Cov.: 29
ClinVar
Submissions by phenotype
Left ventricular noncompaction 8 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 25, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at