rs1790753

Variant names:

• chr11-67433537-C-A
• rs1790753
• NM_003952.3:c.906+90C>A

Your query was ambiguous. Multiple possible variants found:

• chr11-67433537-C-A
• chr11-67433537-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_003952.3(RPS6KB2):​c.906+90C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000236 in 848,186 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: not found (cov: 33)
  • Exomes 𝑓: 0.0000024 (0 hom.)
• Consequence: RPS6KB2 NM_003952.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.74
• Publications: 0 publications found

Genes affected

RPS6KB2 (HGNC:10437): (ribosomal protein S6 kinase B2) This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]

RPS6KB2-AS1 (HGNC:53744): (RPS6KB2 antisense RNA 1)

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RPS6KB2	NM_003952.3	c.906+90C>A		intron_variant	Intron 10 of 14	ENST00000312629.10	NP_003943.2
RPS6KB2	XM_047427395.1	c.884+90C>A		intron_variant	Intron 10 of 10		XP_047283351.1
RPS6KB2	XM_006718656.4	c.306+90C>A		intron_variant	Intron 6 of 10		XP_006718719.1
RPS6KB2	XM_047427396.1	c.815+90C>A		intron_variant	Intron 9 of 9		XP_047283352.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RPS6KB2	ENST00000312629.10	c.906+90C>A		intron_variant	Intron 10 of 14	1	NM_003952.3	ENSP00000308413.5

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome AF: 0.00000236 AC: 2 AN: 848186 Hom.: 0 AF XY: 0.00000451 AC XY: 2 AN XY: 443654

African (AFR) AF: 0.00 AC: 0 AN: 21452

American (AMR) AF: 0.00 AC: 0 AN: 39226

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 21320

East Asian (EAS) AF: 0.00 AC: 0 AN: 35768

South Asian (SAS) AF: 0.0000138 AC: 1 AN: 72402

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 46866

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 4508

European-Non Finnish (NFE) AF: 0.00000177 AC: 1 AN: 566392

Other (OTH) AF: 0.00 AC: 0 AN: 40252

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.26
DANN	Benign	0.78
PhyloP100		-2.7
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.1

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

Other links and lift over

dbSNP: rs1790753; hg19: chr11-67201008;