rs1695770
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000247226.13(PLEKHG3):c.*4745C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.211 in 152,144 control chromosomes in the GnomAD database, including 3,878 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 0.21 ( 3877 hom., cov: 32)
Exomes 𝑓: 0.23 ( 1 hom. )
Consequence
PLEKHG3
ENST00000247226.13 3_prime_UTR
ENST00000247226.13 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.33
Genes affected
PLEKHG3 (HGNC:20364): (pleckstrin homology and RhoGEF domain containing G3) Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
SPTB (HGNC:11274): (spectrin beta, erythrocytic) This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
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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 (BayesDel_noAF=-0.87).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.324 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLEKHG3 | NM_001308147.2 | c.*4745C>T | 3_prime_UTR_variant | 17/17 | ENST00000247226.13 | NP_001295076.1 | ||
SPTB | NM_001355436.2 | c.*858G>A | 3_prime_UTR_variant | 36/36 | ENST00000644917.1 | NP_001342365.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLEKHG3 | ENST00000247226.13 | c.*4745C>T | 3_prime_UTR_variant | 17/17 | 1 | NM_001308147.2 | ENSP00000247226 | A2 | ||
SPTB | ENST00000644917.1 | c.*858G>A | 3_prime_UTR_variant | 36/36 | NM_001355436.2 | ENSP00000495909 | P1 | |||
PLEKHG3 | ENST00000634379.2 | c.*4745C>T | 3_prime_UTR_variant | 17/17 | 1 | ENSP00000489373 | P4 | |||
SPTB | ENST00000389722.7 | c.*858G>A | 3_prime_UTR_variant | 35/35 | 2 | ENSP00000374372 | P1 |
Frequencies
GnomAD3 genomes AF: 0.210 AC: 31981AN: 151964Hom.: 3873 Cov.: 32
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GnomAD4 exome AF: 0.226 AC: 14AN: 62Hom.: 1 Cov.: 0 AF XY: 0.238 AC XY: 10AN XY: 42
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GnomAD4 genome AF: 0.211 AC: 32015AN: 152082Hom.: 3877 Cov.: 32 AF XY: 0.210 AC XY: 15583AN XY: 74354
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at