18-45734389-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015865.7(SLC14A1):āc.457A>Gā(p.Met153Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,613,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_015865.7 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: 0.0000264 AC: 4AN: 151702Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251478Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135910
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461564Hom.: 0 Cov.: 32 AF XY: 0.0000454 AC XY: 33AN XY: 727090
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151702Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74024
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.457A>G (p.M153V) alteration is located in exon 5 (coding exon 3) of the SLC14A1 gene. This alteration results from a A to G substitution at nucleotide position 457, causing the methionine (M) at amino acid position 153 to be replaced by a valine (V). 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