rs4902312
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001355436.2(SPTB):c.4564-4G>A variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0714 in 1,609,878 control chromosomes in the GnomAD database, including 4,553 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001355436.2 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SPTB | NM_001355436.2 | c.4564-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000644917.1 | NP_001342365.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SPTB | ENST00000644917.1 | c.4564-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NM_001355436.2 | ENSP00000495909 | P1 | ||||
SPTB | ENST00000553938.5 | c.559-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | ENSP00000451324 | |||||
SPTB | ENST00000389720.4 | c.4564-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | ENSP00000374370 | |||||
SPTB | ENST00000389722.7 | c.4564-4G>A | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | ENSP00000374372 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0577 AC: 8775AN: 152202Hom.: 294 Cov.: 33
GnomAD3 exomes AF: 0.0597 AC: 14713AN: 246310Hom.: 554 AF XY: 0.0602 AC XY: 8042AN XY: 133662
GnomAD4 exome AF: 0.0729 AC: 106225AN: 1457558Hom.: 4259 Cov.: 35 AF XY: 0.0720 AC XY: 52121AN XY: 724344
GnomAD4 genome AF: 0.0576 AC: 8777AN: 152320Hom.: 294 Cov.: 33 AF XY: 0.0576 AC XY: 4294AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:4
Benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Nov 27, 2023 | - - |
Likely benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 22, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 12, 2019 | This variant is associated with the following publications: (PMID: 25525159, 19538529, 27884173, 27354418) - |
not specified Benign:3
Benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, University Medical Center Utrecht | - | - - |
Elliptocytosis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Spherocytosis, Dominant Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at