chr20-765436-G-A
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_033409.4(SLC52A3):c.339C>T(p.Phe113Phe) variant causes a synonymous change. The variant allele was found at a frequency of 0.00111 in 1,613,158 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_033409.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000762 AC: 116AN: 152206Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00105 AC: 260AN: 247002Hom.: 1 AF XY: 0.00130 AC XY: 174AN XY: 133632
GnomAD4 exome AF: 0.00115 AC: 1677AN: 1460834Hom.: 2 Cov.: 32 AF XY: 0.00119 AC XY: 865AN XY: 726610
GnomAD4 genome AF: 0.000762 AC: 116AN: 152324Hom.: 1 Cov.: 32 AF XY: 0.000698 AC XY: 52AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:2
SLC52A3: BP4, BP7 -
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not specified Benign:1
p.Phe113Phe in exon 2 of SLC52A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.37% (56/15284) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs151229044). -
Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
SLC52A3-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Brown-Vialetto-van Laere syndrome 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at