rs377411211
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BS1BS2
The NM_001122681.2(SH3BP2):c.1481C>T(p.Ser494Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,613,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. S494S) has been classified as Likely benign.
Frequency
Consequence
NM_001122681.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SH3BP2 | NM_001122681.2 | c.1481C>T | p.Ser494Leu | missense_variant | 11/13 | ENST00000503393.8 | |
SH3BP2 | NM_001145856.2 | c.1652C>T | p.Ser551Leu | missense_variant | 11/13 | ||
SH3BP2 | NM_001145855.2 | c.1565C>T | p.Ser522Leu | missense_variant | 11/13 | ||
SH3BP2 | NM_003023.4 | c.1481C>T | p.Ser494Leu | missense_variant | 11/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SH3BP2 | ENST00000503393.8 | c.1481C>T | p.Ser494Leu | missense_variant | 11/13 | 1 | NM_001122681.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251108Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135866
GnomAD4 exome AF: 0.000134 AC: 196AN: 1461582Hom.: 0 Cov.: 32 AF XY: 0.000139 AC XY: 101AN XY: 727112
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152324Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74478
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 07, 2021 | The c.1481C>T (p.S494L) alteration is located in exon 11 (coding exon 10) of the SH3BP2 gene. This alteration results from a C to T substitution at nucleotide position 1481, causing the serine (S) at amino acid position 494 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Fibrous dysplasia of jaw Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Nov 13, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at