10-16811253-C-T

Position:

• chr10-16811253-C-T

Variant summary

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

The NM_012425.4(RSU1):​c.109+5720G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.601 in 152,002 control chromosomes in the GnomAD database, including 29,132 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 0.60 (29132 hom., cov: 32)
• Consequence: RSU1 NM_012425.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.72

Genes affected

RSU1 (HGNC:10464): (Ras suppressor protein 1) This gene encodes a protein that is involved in the Ras signal transduction pathway, growth inhibition, and nerve-growth factor induced differentiation processes, as determined in mouse and human cell line studies. In mouse, the encoded protein was initially isolated based on its ability to inhibit v-Ras transformation. Multiple alternatively spliced transcript variants for this gene have been reported; one of these variants was found only in glioma tumors. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.81 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
RSU1	NM_012425.4	c.109+5720G>A		intron_variant		ENST00000345264.10	NP_036557.1
RSU1	NM_152724.3	c.-51+6062G>A		intron_variant			NP_689937.2
RSU1	XM_047425617.1	c.109+5720G>A		intron_variant			XP_047281573.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
RSU1	ENST00000345264.10	c.109+5720G>A		intron_variant		1	NM_012425.4	ENSP00000339521	P1

Frequencies

GnomAD3 genomes AF: 0.600 AC: 91198 AN: 151884 Hom.: 29076 Cov.: 32

Gnomad AFR AF: 0.818

Gnomad AMI AF: 0.523

Gnomad AMR AF: 0.593

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.793

Gnomad SAS AF: 0.533

Gnomad FIN AF: 0.594

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.472

Gnomad OTH AF: 0.556

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

GnomAD4 genome AF: 0.601 AC: 91319 AN: 152002 Hom.: 29132 Cov.: 32 AF XY: 0.606 AC XY: 45012 AN XY: 74280

Gnomad4 AFR AF: 0.818

Gnomad4 AMR AF: 0.593

Gnomad4 ASJ AF: 0.446

Gnomad4 EAS AF: 0.793

Gnomad4 SAS AF: 0.533

Gnomad4 FIN AF: 0.594

Gnomad4 NFE AF: 0.472

Gnomad4 OTH AF: 0.562

Alfa AF: 0.554 Hom.: 3046

Bravo AF: 0.614

Asia WGS AF: 0.675 AC: 2345 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.21
DANN	Benign	0.37

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: rs1797077; hg19: chr10-16853252;