chr11-83240793-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001300975.2(ANKRD42):c.1054G>A(p.Glu352Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,734 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD42 | NM_001300975.2 | c.1054G>A | p.Glu352Lys | missense_variant | 9/11 | ENST00000533342.6 | |
ANKRD42 | NM_001300973.2 | c.1051G>A | p.Glu351Lys | missense_variant | 9/12 | ||
ANKRD42 | NM_001300972.2 | c.1054G>A | p.Glu352Lys | missense_variant | 9/12 | ||
ANKRD42 | NM_182603.4 | c.970G>A | p.Glu324Lys | missense_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD42 | ENST00000533342.6 | c.1054G>A | p.Glu352Lys | missense_variant | 9/11 | 1 | NM_001300975.2 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461734Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727168
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 27, 2023 | The c.970G>A (p.E324K) alteration is located in exon 9 (coding exon 9) of the ANKRD42 gene. This alteration results from a G to A substitution at nucleotide position 970, causing the glutamic acid (E) at amino acid position 324 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.