chr17-46517231-G-C
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The ENST00000445552.6(ARL17A):āc.262C>Gā(p.Leu88Val) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Genomes: š 0.00010 ( 2 hom., cov: 14)
Exomes š: 0.0000042 ( 1 hom. )
Failed GnomAD Quality Control
Consequence
ARL17A
ENST00000445552.6 missense, splice_region
ENST00000445552.6 missense, splice_region
Scores
3
11
Clinical Significance
Conservation
PhyloP100: 0.646
Genes affected
ARL17A (HGNC:24096): (ADP ribosylation factor like GTPase 17A) Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in 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 -8 ACMG points.
BP4
Computational evidence support a benign effect (MetaRNN=0.04620132).
BS2
High Homozygotes in GnomAd4 at 2 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LRRC37A2 | NM_001006607.3 | c.2610-131G>C | intron_variant | ENST00000576629.6 | NP_001006608.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LRRC37A2 | ENST00000576629.6 | c.2610-131G>C | intron_variant | 5 | NM_001006607.3 | ENSP00000459551 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 9AN: 85942Hom.: 2 Cov.: 14
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GnomAD3 exomes AF: 0.0000415 AC: 5AN: 120428Hom.: 1 AF XY: 0.00 AC XY: 0AN XY: 63548
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000425 AC: 3AN: 706516Hom.: 1 Cov.: 4 AF XY: 0.00000288 AC XY: 1AN XY: 347664
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GnomAD4 genome AF: 0.000105 AC: 9AN: 85942Hom.: 2 Cov.: 14 AF XY: 0.0000236 AC XY: 1AN XY: 42362
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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 | Jul 21, 2021 | The c.262C>G (p.L88V) alteration is located in exon 4 (coding exon 3) of the ARL17A gene. This alteration results from a C to G substitution at nucleotide position 262, causing the leucine (L) at amino acid position 88 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
M_CAP
Uncertain
D
MetaRNN
Benign
T
MetaSVM
Benign
T
MutationTaster
Benign
N;N;N;N;N
PROVEAN
Benign
N
REVEL
Benign
Sift
Uncertain
D
Sift4G
Uncertain
D
Vest4
MVP
ClinPred
T
GERP RS
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