9-19316723-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001330640.2(DENND4C):āc.1691A>Gā(p.Glu564Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E564Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001330640.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DENND4C | NM_001330640.2 | c.1691A>G | p.Glu564Gly | missense_variant | 12/33 | ENST00000434457.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DENND4C | ENST00000434457.7 | c.1691A>G | p.Glu564Gly | missense_variant | 12/33 | 5 | NM_001330640.2 | P4 | |
DENND4C | ENST00000494124.2 | c.1010A>G | p.Glu337Gly | missense_variant, NMD_transcript_variant | 8/28 | 1 | |||
DENND4C | ENST00000602925.5 | c.1691A>G | p.Glu564Gly | missense_variant | 12/32 | 5 | A1 | ||
DENND4C | ENST00000380437.8 | n.1009A>G | non_coding_transcript_exon_variant | 8/29 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461832Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727220
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.983A>G (p.E328G) alteration is located in exon 8 (coding exon 8) of the DENND4C gene. This alteration results from a A to G substitution at nucleotide position 983, causing the glutamic acid (E) at amino acid position 328 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.