chr11-83227840-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001300975.2(ANKRD42):c.881G>A(p.Arg294His) variant causes a missense change. The variant allele was found at a frequency of 0.0000304 in 1,611,998 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R294L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001300975.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD42 | NM_001300975.2 | c.881G>A | p.Arg294His | missense_variant | 7/11 | ENST00000533342.6 | |
ANKRD42 | NM_001300973.2 | c.878G>A | p.Arg293His | missense_variant | 7/12 | ||
ANKRD42 | NM_001300972.2 | c.881G>A | p.Arg294His | missense_variant | 7/12 | ||
ANKRD42 | NM_182603.4 | c.797G>A | p.Arg266His | missense_variant | 7/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD42 | ENST00000533342.6 | c.881G>A | p.Arg294His | missense_variant | 7/11 | 1 | NM_001300975.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249448Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134830
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1459744Hom.: 0 Cov.: 30 AF XY: 0.0000330 AC XY: 24AN XY: 726206
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 13, 2022 | The c.797G>A (p.R266H) alteration is located in exon 7 (coding exon 7) of the ANKRD42 gene. This alteration results from a G to A substitution at nucleotide position 797, causing the arginine (R) at amino acid position 266 to be replaced by a histidine (H). 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