rs3742601
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001355436.2(SPTB):c.1838G>T(p.Ser613Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00102 in 1,611,054 control chromosomes in the GnomAD database, including 19 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001355436.2 missense
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.1838G>T | p.Ser613Ile | missense_variant | 14/36 | ENST00000644917.1 | NP_001342365.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SPTB | ENST00000644917.1 | c.1838G>T | p.Ser613Ile | missense_variant | 14/36 | NM_001355436.2 | ENSP00000495909 | P1 | ||
SPTB | ENST00000389722.7 | c.1838G>T | p.Ser613Ile | missense_variant | 13/35 | 2 | ENSP00000374372 | P1 | ||
SPTB | ENST00000389720.4 | c.1838G>T | p.Ser613Ile | missense_variant | 14/32 | 5 | ENSP00000374370 |
Frequencies
GnomAD3 genomes AF: 0.00134 AC: 203AN: 152008Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00284 AC: 701AN: 247250Hom.: 4 AF XY: 0.00233 AC XY: 313AN XY: 134144
GnomAD4 exome AF: 0.000986 AC: 1439AN: 1458918Hom.: 17 Cov.: 36 AF XY: 0.000956 AC XY: 694AN XY: 725974
GnomAD4 genome AF: 0.00139 AC: 212AN: 152136Hom.: 2 Cov.: 32 AF XY: 0.00147 AC XY: 109AN XY: 74392
ClinVar
Submissions by phenotype
not provided Benign:3
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 18, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Dec 30, 2022 | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
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