5-56111441-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024669.3(ANKRD55):c.1307G>A(p.Ser436Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000223 in 1,614,134 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024669.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152152Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000291 AC: 73AN: 251106Hom.: 0 AF XY: 0.000339 AC XY: 46AN XY: 135700
GnomAD4 exome AF: 0.000222 AC: 325AN: 1461864Hom.: 0 Cov.: 33 AF XY: 0.000241 AC XY: 175AN XY: 727236
GnomAD4 genome AF: 0.000230 AC: 35AN: 152270Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1307G>A (p.S436N) alteration is located in exon 10 (coding exon 9) of the ANKRD55 gene. This alteration results from a G to A substitution at nucleotide position 1307, causing the serine (S) at amino acid position 436 to be replaced by an asparagine (N). 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