6-39900105-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001201427.2(DAAM2):c.2708G>A(p.Arg903Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000225 in 1,600,202 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001201427.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DAAM2 | NM_001201427.2 | c.2708G>A | p.Arg903Gln | missense_variant | 23/25 | ENST00000274867.9 | NP_001188356.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DAAM2 | ENST00000274867.9 | c.2708G>A | p.Arg903Gln | missense_variant | 23/25 | 1 | NM_001201427.2 | ENSP00000274867.4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152106Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000178 AC: 4AN: 225120Hom.: 0 AF XY: 0.00000822 AC XY: 1AN XY: 121632
GnomAD4 exome AF: 0.0000242 AC: 35AN: 1448096Hom.: 0 Cov.: 30 AF XY: 0.0000236 AC XY: 17AN XY: 718888
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 08, 2024 | The c.2708G>A (p.R903Q) alteration is located in exon 23 (coding exon 22) of the DAAM2 gene. This alteration results from a G to A substitution at nucleotide position 2708, causing the arginine (R) at amino acid position 903 to be replaced by a glutamine (Q). 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