10-88831953-G-C
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144590.3(ANKRD22):āc.95C>Gā(p.Ala32Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,613,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Genomes: š 0.000099 ( 0 hom., cov: 32)
Exomes š: 0.000016 ( 0 hom. )
Consequence
ANKRD22
NM_144590.3 missense
NM_144590.3 missense
Scores
3
16
Clinical Significance
Conservation
PhyloP100: 5.71
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.109736085).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD22 | NM_144590.3 | c.95C>G | p.Ala32Gly | missense_variant | 2/6 | ENST00000371930.5 | NP_653191.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD22 | ENST00000371930.5 | c.95C>G | p.Ala32Gly | missense_variant | 2/6 | 1 | NM_144590.3 | ENSP00000360998 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152118Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251318Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135834
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GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461648Hom.: 0 Cov.: 30 AF XY: 0.00000963 AC XY: 7AN XY: 727130
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GnomAD4 genome AF: 0.0000986 AC: 15AN: 152118Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74304
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ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 31, 2024 | The c.95C>G (p.A32G) alteration is located in exon 2 (coding exon 2) of the ANKRD22 gene. This alteration results from a C to G substitution at nucleotide position 95, causing the alanine (A) at amino acid position 32 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
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Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
DEOGEN2
Benign
T
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
D
LIST_S2
Benign
T
M_CAP
Benign
D
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationAssessor
Benign
L
MutationTaster
Benign
N
PrimateAI
Benign
T
PROVEAN
Uncertain
D
REVEL
Benign
Sift
Uncertain
D
Sift4G
Uncertain
D
Polyphen
B
Vest4
MVP
MPC
ClinPred
T
GERP RS
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gMVP
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at