chr20-1649106-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018556.4(SIRPG):c.376A>G(p.Ser126Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000182 in 1,613,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018556.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SIRPG | NM_018556.4 | c.376A>G | p.Ser126Gly | missense_variant | 2/6 | ENST00000303415.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SIRPG | ENST00000303415.7 | c.376A>G | p.Ser126Gly | missense_variant | 2/6 | 1 | NM_018556.4 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000836 AC: 21AN: 251176Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135744
GnomAD4 exome AF: 0.000189 AC: 276AN: 1461672Hom.: 0 Cov.: 31 AF XY: 0.000173 AC XY: 126AN XY: 727148
GnomAD4 genome ? AF: 0.000112 AC: 17AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 25, 2023 | The c.376A>G (p.S126G) alteration is located in exon 2 (coding exon 2) of the SIRPG gene. This alteration results from a A to G substitution at nucleotide position 376, causing the serine (S) at amino acid position 126 to be replaced by a glycine (G). 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