chr11-83227840-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001300975.2(ANKRD42):c.881G>T(p.Arg294Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000744 in 1,611,880 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. R294H) 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>T | p.Arg294Leu | missense_variant | 7/11 | ENST00000533342.6 | |
ANKRD42 | NM_001300973.2 | c.878G>T | p.Arg293Leu | missense_variant | 7/12 | ||
ANKRD42 | NM_001300972.2 | c.881G>T | p.Arg294Leu | missense_variant | 7/12 | ||
ANKRD42 | NM_182603.4 | c.797G>T | p.Arg266Leu | missense_variant | 7/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD42 | ENST00000533342.6 | c.881G>T | p.Arg294Leu | missense_variant | 7/11 | 1 | NM_001300975.2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152136Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249448Hom.: 0 AF XY: 0.0000593 AC XY: 8AN XY: 134830
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1459744Hom.: 0 Cov.: 30 AF XY: 0.00000964 AC XY: 7AN XY: 726206
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 15, 2023 | The c.797G>T (p.R266L) alteration is located in exon 7 (coding exon 7) of the ANKRD42 gene. This alteration results from a G to T substitution at nucleotide position 797, causing the arginine (R) at amino acid position 266 to be replaced by a leucine (L). 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