2-96825150-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_017623.5(CNNM3):c.1318G>A(p.Val440Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,614,040 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 (★).
Frequency
Consequence
NM_017623.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
CNNM3 | ENST00000305510.4 | c.1318G>A | p.Val440Met | missense_variant | Exon 2 of 8 | 1 | NM_017623.5 | ENSP00000305449.3 | ||
CNNM3 | ENST00000377060.7 | c.1226-1683G>A | intron_variant | Intron 1 of 6 | 2 | ENSP00000366260.3 | ||||
ANKRD23 | ENST00000476975.5 | n.799-291C>T | intron_variant | Intron 7 of 7 | 5 | |||||
CNNM3 | ENST00000465224.5 | n.-25G>A | upstream_gene_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251346Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135868
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461848Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727224
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1318G>A (p.V440M) alteration is located in exon 2 (coding exon 2) of the CNNM3 gene. This alteration results from a G to A substitution at nucleotide position 1318, causing the valine (V) at amino acid position 440 to be replaced by a methionine (M). 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