chr11-43335908-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM1BP4_ModerateBS2
The NM_001142930.2(API5):c.1406C>G(p.Ser469Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,613,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001142930.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250596Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135426
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461456Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727014
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1406C>G (p.S469C) alteration is located in exon 13 (coding exon 13) of the API5 gene. This alteration results from a C to G substitution at nucleotide position 1406, causing the serine (S) at amino acid position 469 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at