16-70463678-C-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_145059.3(FCSK):c.138C>A(p.Ala46Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00747 in 1,613,114 control chromosomes in the GnomAD database, including 842 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_145059.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0404 AC: 6140AN: 151986Hom.: 436 Cov.: 32
GnomAD3 exomes AF: 0.0101 AC: 2502AN: 248896Hom.: 177 AF XY: 0.00768 AC XY: 1039AN XY: 135232
GnomAD4 exome AF: 0.00402 AC: 5879AN: 1461010Hom.: 399 Cov.: 31 AF XY: 0.00342 AC XY: 2485AN XY: 726800
GnomAD4 genome AF: 0.0405 AC: 6166AN: 152104Hom.: 443 Cov.: 32 AF XY: 0.0392 AC XY: 2913AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:2
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FCSK-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