rs114788552
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001080451.2(SERPINA11):c.667C>T(p.Arg223Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000663 in 1,613,970 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R223G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001080451.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000283 AC: 43AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 250854Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135556
GnomAD4 exome AF: 0.0000417 AC: 61AN: 1461650Hom.: 0 Cov.: 33 AF XY: 0.0000330 AC XY: 24AN XY: 727120
GnomAD4 genome AF: 0.000302 AC: 46AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.000362 AC XY: 27AN XY: 74492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.667C>T (p.R223C) alteration is located in exon 3 (coding exon 2) of the SERPINA11 gene. This alteration results from a C to T substitution at nucleotide position 667, causing the arginine (R) at amino acid position 223 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