1-197595228-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001195215.2(DENND1B):c.1027G>A(p.Asp343Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,612,884 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DENND1B | ENST00000620048.6 | c.1027G>A | p.Asp343Asn | missense_variant | Exon 14 of 23 | 5 | NM_001195215.2 | ENSP00000479816.1 | ||
DENND1B | ENST00000367396.7 | c.1027G>A | p.Asp343Asn | missense_variant | Exon 14 of 16 | 1 | ENSP00000356366.3 | |||
DENND1B | ENST00000235453.8 | c.937G>A | p.Asp313Asn | missense_variant | Exon 14 of 16 | 1 | ENSP00000235453.4 | |||
DENND1B | ENST00000294737.11 | n.967G>A | non_coding_transcript_exon_variant | Exon 13 of 20 | 2 | ENSP00000294737.7 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152062Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248736Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134910
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1460822Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 726686
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152062Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1027G>A (p.D343N) alteration is located in exon 14 (coding exon 14) of the DENND1B gene. This alteration results from a G to A substitution at nucleotide position 1027, causing the aspartic acid (D) at amino acid position 343 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at