rs10509559

chr10-88908227-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_020799.4(STAMBPL1):c.249-475A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0539 in 152,196 control chromosomes in the GnomAD database, including 570 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.054 (570 hom., cov: 32)
• Consequence: STAMBPL1 NM_020799.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.423

Genes affected

STAMBPL1 (HGNC:24105): (STAM binding protein like 1) Predicted to enable Lys63-specific deubiquitinase activity and thiol-dependent deubiquitinase. Predicted to be involved in protein K63-linked deubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.154 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
STAMBPL1	NM_020799.4	c.249-475A>G		intron_variant		ENST00000371926.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
STAMBPL1	ENST00000371926.8	c.249-475A>G		intron_variant		1	NM_020799.4	P1
STAMBPL1	ENST00000371924.5	c.249-475A>G		intron_variant		1		P1
STAMBPL1	ENST00000371927.7	c.249-475A>G		intron_variant		2

Frequencies

GnomAD3 genomes AF: 0.0539 AC: 8195 AN: 152078 Hom.: 568 Cov.: 32

Gnomad AFR AF: 0.158

Gnomad AMI AF: 0.00439

Gnomad AMR AF: 0.0212

Gnomad ASJ AF: 0.00605

Gnomad EAS AF: 0.111

Gnomad SAS AF: 0.0292

Gnomad FIN AF: 0.00961

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.00587

Gnomad OTH AF: 0.0469

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0539 AC: 8210 AN: 152196 Hom.: 570 Cov.: 32 AF XY: 0.0532 AC XY: 3956 AN XY: 74416

Gnomad4 AFR AF: 0.157

Gnomad4 AMR AF: 0.0211

Gnomad4 ASJ AF: 0.00605

Gnomad4 EAS AF: 0.112

Gnomad4 SAS AF: 0.0297

Gnomad4 FIN AF: 0.00961

Gnomad4 NFE AF: 0.00587

Gnomad4 OTH AF: 0.0473

Alfa AF: 0.0337 Hom.: 41

Bravo AF: 0.0603

Asia WGS AF: 0.0850 AC: 297 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
Cadd	Benign	0.28
Dann	Benign	0.51

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs10509559; hg19: chr10-90667984;