chr21-13610401-G-A
Position:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_174981.6(POTED):c.173G>A(p.Arg58Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 4)
Consequence
POTED
NM_174981.6 missense
NM_174981.6 missense
Scores
1
2
11
Clinical Significance
Conservation
PhyloP100: 0.875
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.06720072).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POTED | NM_174981.6 | c.173G>A | p.Arg58Lys | missense_variant | 1/11 | ENST00000299443.6 | |
POTED | XM_006723997.4 | c.173G>A | p.Arg58Lys | missense_variant | 1/8 | ||
POTED | XM_011529550.3 | c.173G>A | p.Arg58Lys | missense_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POTED | ENST00000299443.6 | c.173G>A | p.Arg58Lys | missense_variant | 1/11 | 1 | NM_174981.6 | P1 | |
POTED | ENST00000620442.4 | c.173G>A | p.Arg58Lys | missense_variant | 1/8 | 1 |
Frequencies
GnomAD3 genomes Cov.: 4
GnomAD3 genomes
Cov.:
4
GnomAD4 exome Cov.: 14
GnomAD4 exome
Cov.:
14
GnomAD4 genome Cov.: 4
GnomAD4 genome
Cov.:
4
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 06, 2021 | The c.173G>A (p.R58K) alteration is located in exon 1 (coding exon 1) of the POTED gene. This alteration results from a G to A substitution at nucleotide position 173, causing the arginine (R) at amino acid position 58 to be replaced by a lysine (K). 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_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Uncertain
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
LIST_S2
Benign
T;T
M_CAP
Benign
T
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationTaster
Benign
N
PrimateAI
Uncertain
T
Sift4G
Pathogenic
D;D
Polyphen
0.14
.;B
Vest4
MutPred
Loss of helix (P = 0.0033);Loss of helix (P = 0.0033);
MVP
ClinPred
T
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
Publications
No publications associated with this variant yet.