chr18-45730450-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_015865.7(SLC14A1):c.130G>A(p.Glu44Lys) variant causes a missense change. The variant allele was found at a frequency of 0.102 in 1,613,960 control chromosomes in the GnomAD database, including 13,402 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_015865.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.138 AC: 20915AN: 152026Hom.: 1959 Cov.: 32
GnomAD3 exomes AF: 0.152 AC: 38188AN: 251310Hom.: 4241 AF XY: 0.148 AC XY: 20132AN XY: 135812
GnomAD4 exome AF: 0.0988 AC: 144449AN: 1461816Hom.: 11440 Cov.: 32 AF XY: 0.102 AC XY: 74446AN XY: 727212
GnomAD4 genome AF: 0.138 AC: 20943AN: 152144Hom.: 1962 Cov.: 32 AF XY: 0.145 AC XY: 10772AN XY: 74382
ClinVar
Submissions by phenotype
SLC14A1-related disorder Benign:1
Benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 21, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at