rs757551222
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001195215.2(DENND1B):c.1163G>T(p.Arg388Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000146 in 1,369,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R388Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001195215.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DENND1B | ENST00000620048.6 | c.1163G>T | p.Arg388Leu | missense_variant | Exon 16 of 23 | 5 | NM_001195215.2 | ENSP00000479816.1 | ||
DENND1B | ENST00000367396.7 | c.1163G>T | p.Arg388Leu | missense_variant | Exon 16 of 16 | 1 | ENSP00000356366.3 | |||
DENND1B | ENST00000235453.8 | c.1073G>T | p.Arg358Leu | missense_variant | Exon 16 of 16 | 1 | ENSP00000235453.4 | |||
DENND1B | ENST00000294737.11 | n.988-6326G>T | intron_variant | Intron 13 of 19 | 2 | ENSP00000294737.7 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1369976Hom.: 0 Cov.: 31 AF XY: 0.00000147 AC XY: 1AN XY: 678372
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.