18-45730348-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_015865.7(SLC14A1):c.28G>A(p.Val10Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00426 in 1,613,198 control chromosomes in the GnomAD database, including 152 homozygotes. 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 Benign (★★).
Frequency
Consequence
NM_015865.7 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: 0.0179 AC: 2719AN: 151730Hom.: 67 Cov.: 32
GnomAD3 exomes AF: 0.00569 AC: 1430AN: 251288Hom.: 33 AF XY: 0.00451 AC XY: 612AN XY: 135800
GnomAD4 exome AF: 0.00284 AC: 4156AN: 1461352Hom.: 84 Cov.: 31 AF XY: 0.00265 AC XY: 1924AN XY: 727004
GnomAD4 genome AF: 0.0179 AC: 2723AN: 151846Hom.: 68 Cov.: 32 AF XY: 0.0177 AC XY: 1311AN XY: 74260
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at