2-196993652-T-C
Position:
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001195144.2(ANKRD44):āc.2854A>Gā(p.Asn952Asp) variant causes a missense change. The variant allele was found at a frequency of 0.000000715 in 1,398,678 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 (ā ).
Frequency
Genomes: not found (cov: 33)
Exomes š: 7.1e-7 ( 0 hom. )
Consequence
ANKRD44
NM_001195144.2 missense
NM_001195144.2 missense
Scores
1
9
7
Clinical Significance
Conservation
PhyloP100: 6.09
Genes affected
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (MetaRNN=0.35774544).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD44 | NM_001195144.2 | c.2854A>G | p.Asn952Asp | missense_variant | 27/28 | ENST00000282272.15 | NP_001182073.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD44 | ENST00000282272.15 | c.2854A>G | p.Asn952Asp | missense_variant | 27/28 | 5 | NM_001195144.2 | ENSP00000282272 | P4 | |
ANKRD44 | ENST00000424317.5 | c.2299A>G | p.Asn767Asp | missense_variant | 21/22 | 1 | ENSP00000403415 | |||
ANKRD44 | ENST00000647377.1 | c.2854A>G | p.Asn952Asp | missense_variant | 27/28 | ENSP00000496628 | A1 | |||
ANKRD44 | ENST00000486006.1 | upstream_gene_variant | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 genomes
Cov.:
33
GnomAD3 exomes AF: 0.00000662 AC: 1AN: 150994Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 80886
GnomAD3 exomes
AF:
AC:
1
AN:
150994
Hom.:
AF XY:
AC XY:
0
AN XY:
80886
Gnomad AFR exome
AF:
Gnomad AMR exome
AF:
Gnomad ASJ exome
AF:
Gnomad EAS exome
AF:
Gnomad SAS exome
AF:
Gnomad FIN exome
AF:
Gnomad NFE exome
AF:
Gnomad OTH exome
AF:
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1398678Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 689830
GnomAD4 exome
AF:
AC:
1
AN:
1398678
Hom.:
Cov.:
31
AF XY:
AC XY:
0
AN XY:
689830
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome Cov.: 33
GnomAD4 genome
Cov.:
33
Bravo
AF:
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 | Jul 20, 2021 | The c.2854A>G (p.N952D) alteration is located in exon 27 (coding exon 27) of the ANKRD44 gene. This alteration results from a A to G substitution at nucleotide position 2854, causing the asparagine (N) at amino acid position 952 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Uncertain
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
.;.;T
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
LIST_S2
Pathogenic
D;D;D
MetaRNN
Benign
T;T;T
MetaSVM
Benign
T
MutationAssessor
Benign
.;.;L
PrimateAI
Uncertain
T
PROVEAN
Uncertain
D;.;.
REVEL
Benign
Sift
Uncertain
D;.;.
Sift4G
Uncertain
D;.;D
Vest4
0.33
MVP
ClinPred
D
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at