rs61731845
Positions:
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001145028.2(PALM3):c.760G>A(p.Glu254Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00268 in 1,549,352 control chromosomes in the GnomAD database, including 78 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.013 ( 40 hom., cov: 32)
Exomes 𝑓: 0.0015 ( 38 hom. )
Consequence
PALM3
NM_001145028.2 missense
NM_001145028.2 missense
Scores
1
3
14
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.926
Genes affected
PALM3 (HGNC:33274): (paralemmin 3) Predicted to enable ATP binding activity. Involved in Toll signaling pathway; negative regulation of cytokine-mediated signaling pathway; and response to lipopolysaccharide. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (MetaRNN=0.0033938289).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0133 (2020/152316) while in subpopulation AFR AF= 0.0451 (1874/41564). AF 95% confidence interval is 0.0434. There are 40 homozygotes in gnomad4. There are 972 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd4 at 40 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PALM3 | NM_001145028.2 | c.760G>A | p.Glu254Lys | missense_variant | 7/7 | ENST00000669674.2 | |
PALM3 | NM_001367327.1 | c.562G>A | p.Glu188Lys | missense_variant | 5/5 | ||
PALM3 | XM_047438763.1 | c.679G>A | p.Glu227Lys | missense_variant | 6/6 | ||
PALM3 | XM_047438764.1 | c.562G>A | p.Glu188Lys | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PALM3 | ENST00000669674.2 | c.760G>A | p.Glu254Lys | missense_variant | 7/7 | NM_001145028.2 | A2 | ||
PALM3 | ENST00000340790.9 | c.715G>A | p.Glu239Lys | missense_variant | 6/6 | 5 | P4 | ||
PALM3 | ENST00000661591.1 | c.640G>A | p.Glu214Lys | missense_variant | 4/4 | A2 | |||
PALM3 | ENST00000589048.2 | c.562G>A | p.Glu188Lys | missense_variant | 5/5 | 3 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0132 AC: 2011AN: 152198Hom.: 40 Cov.: 32
GnomAD3 genomes
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GnomAD3 exomes AF: 0.00332 AC: 512AN: 154318Hom.: 13 AF XY: 0.00256 AC XY: 210AN XY: 81978
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GnomAD4 exome AF: 0.00153 AC: 2135AN: 1397036Hom.: 38 Cov.: 35 AF XY: 0.00133 AC XY: 918AN XY: 689202
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GnomAD4 genome ? AF: 0.0133 AC: 2020AN: 152316Hom.: 40 Cov.: 32 AF XY: 0.0131 AC XY: 972AN XY: 74480
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ExAC
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129
Asia WGS
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3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Uncertain
DANN
Pathogenic
DEOGEN2
Benign
T;T
Eigen
Uncertain
Eigen_PC
Benign
FATHMM_MKL
Benign
D
LIST_S2
Benign
T;.
MetaRNN
Benign
T;T
MetaSVM
Benign
T
MutationAssessor
Benign
L;.
MutationTaster
Benign
N
PrimateAI
Uncertain
T
PROVEAN
Benign
N;.
REVEL
Benign
Sift
Uncertain
D;.
Sift4G
Benign
T;D
Polyphen
D;.
Vest4
MVP
ClinPred
T
GERP RS
Varity_R
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