chr5-128538228-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001999.4(FBN2):c.-625G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0798 in 153,932 control chromosomes in the GnomAD database, including 615 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001999.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0803 AC: 12110AN: 150868Hom.: 610 Cov.: 30
GnomAD4 exome AF: 0.0586 AC: 173AN: 2954Hom.: 6 Cov.: 0 AF XY: 0.0577 AC XY: 104AN XY: 1802
GnomAD4 genome AF: 0.0802 AC: 12105AN: 150978Hom.: 609 Cov.: 30 AF XY: 0.0796 AC XY: 5870AN XY: 73702
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at