18-45731089-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.226G>A(p.Val76Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0052 in 1,614,142 control chromosomes in the GnomAD database, including 234 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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: 0.0220 AC: 3340AN: 152158Hom.: 110 Cov.: 32
GnomAD3 exomes AF: 0.00692 AC: 1740AN: 251428Hom.: 47 AF XY: 0.00542 AC XY: 737AN XY: 135880
GnomAD4 exome AF: 0.00345 AC: 5042AN: 1461866Hom.: 123 Cov.: 32 AF XY: 0.00324 AC XY: 2356AN XY: 727232
GnomAD4 genome AF: 0.0220 AC: 3346AN: 152276Hom.: 111 Cov.: 32 AF XY: 0.0217 AC XY: 1612AN XY: 74454
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