1-145868345-C-T
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Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_144698.5(ANKRD35):c.2843G>A(p.Arg948Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,614,076 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 (★).
Frequency
Genomes: 𝑓 0.000020 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000039 ( 0 hom. )
Consequence
ANKRD35
NM_144698.5 missense
NM_144698.5 missense
Scores
1
2
6
Clinical Significance
Conservation
PhyloP100: 2.42
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=0.18994394).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD35 | NM_144698.5 | c.2843G>A | p.Arg948Gln | missense_variant | 11/14 | ENST00000355594.9 | NP_653299.4 | |
ANKRD35 | NM_001280799.2 | c.2573G>A | p.Arg858Gln | missense_variant | 9/12 | NP_001267728.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ANKRD35 | ENST00000355594.9 | c.2843G>A | p.Arg948Gln | missense_variant | 11/14 | 2 | NM_144698.5 | ENSP00000347802 | P1 | |
ANKRD35 | ENST00000544626.2 | c.2573G>A | p.Arg858Gln | missense_variant | 9/12 | 5 | ENSP00000442671 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152186Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251460Hom.: 0 AF XY: 0.0000441 AC XY: 6AN XY: 135904
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GnomAD4 exome AF: 0.0000390 AC: 57AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727246
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GnomAD4 genome AF: 0.0000197 AC: 3AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
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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 | Dec 06, 2022 | The c.2843G>A (p.R948Q) alteration is located in exon 11 (coding exon 11) of the ANKRD35 gene. This alteration results from a G to A substitution at nucleotide position 2843, causing the arginine (R) at amino acid position 948 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_noAF
Pathogenic
CADD
Uncertain
DANN
Uncertain
DEOGEN2
Benign
.;T
LIST_S2
Uncertain
.;D
MetaRNN
Benign
T;T
PROVEAN
Benign
N;.
Sift
Benign
T;.
Sift4G
Benign
T;T
Vest4
gMVP
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at