20-1571035-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006065.5(SIRPB1):c.854C>T(p.Thr285Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006065.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIRPB1 | NM_006065.5 | c.854C>T | p.Thr285Ile | missense_variant | 4/6 | ENST00000381605.9 | |
SIRPB1 | XM_005260641.4 | c.851C>T | p.Thr284Ile | missense_variant | 4/6 | ||
SIRPB1 | NM_001083910.4 | c.434-4768C>T | intron_variant | ||||
SIRPB1 | NM_001330639.2 | c.431-4768C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRPB1 | ENST00000381605.9 | c.854C>T | p.Thr285Ile | missense_variant | 4/6 | 1 | NM_006065.5 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 152178Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251410Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135868
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461876Hom.: 0 Cov.: 34 AF XY: 0.0000193 AC XY: 14AN XY: 727238
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 30, 2024 | The c.854C>T (p.T285I) alteration is located in exon 4 (coding exon 4) of the SIRPB1 gene. This alteration results from a C to T substitution at nucleotide position 854, causing the threonine (T) at amino acid position 285 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at