4-70366915-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012390.4(SMR3A):c.326C>A(p.Pro109Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,552 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012390.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151940Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251278Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135804
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461612Hom.: 0 Cov.: 76 AF XY: 0.00000413 AC XY: 3AN XY: 727118
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151940Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74188
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.326C>A (p.P109Q) alteration is located in exon 3 (coding exon 2) of the SMR3A gene. This alteration results from a C to A substitution at nucleotide position 326, causing the proline (P) at amino acid position 109 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