rs28362318
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_000043.6(FAS):c.369G>A(p.Gln123Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00737 in 1,613,954 control chromosomes in the GnomAD database, including 76 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000043.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00524 AC: 798AN: 152200Hom.: 4 Cov.: 33
GnomAD3 exomes AF: 0.00620 AC: 1559AN: 251454Hom.: 18 AF XY: 0.00659 AC XY: 895AN XY: 135900
GnomAD4 exome AF: 0.00759 AC: 11092AN: 1461636Hom.: 72 Cov.: 31 AF XY: 0.00765 AC XY: 5565AN XY: 727136
GnomAD4 genome AF: 0.00523 AC: 796AN: 152318Hom.: 4 Cov.: 33 AF XY: 0.00491 AC XY: 366AN XY: 74488
ClinVar
Submissions by phenotype
Autoimmune lymphoproliferative syndrome type 1 Benign:4
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This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
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not provided Benign:3
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FAS: BP4, BP7, BS2 -
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not specified Benign:1
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FAS-related disorder Benign:1
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