NM_020708.5:c.1150C>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_020708.5(SLC12A5):c.1150C>G(p.Pro384Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0456 in 1,613,800 control chromosomes in the GnomAD database, including 1,903 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020708.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0456 AC: 6927AN: 151834Hom.: 199 Cov.: 31
GnomAD3 exomes AF: 0.0398 AC: 10005AN: 251396Hom.: 263 AF XY: 0.0396 AC XY: 5379AN XY: 135878
GnomAD4 exome AF: 0.0456 AC: 66636AN: 1461848Hom.: 1704 Cov.: 32 AF XY: 0.0444 AC XY: 32289AN XY: 727228
GnomAD4 genome AF: 0.0456 AC: 6929AN: 151952Hom.: 199 Cov.: 31 AF XY: 0.0470 AC XY: 3493AN XY: 74290
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 34 Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at