Genetic Variant RPS29:c.163-5_163-4dupTT (chr14-49583678-G-GAA) – ACMG Classification: Likely_benign (-4 pts)

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The NM_001032.5(RPS29):c.163-5_163-4dupTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0 ( 0 hom., cov: 32)

Exomes 𝑓: 0.00036 ( 0 hom. )

Failed GnomAD Quality Control

Consequence

RPS29
NM_001032.5 splice_region, intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.536

Variant links:

Genes affected

RPS29 (HGNC:10419): (ribosomal protein S29) Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]

RPS29 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BS2

High AC in GnomAdExome4 at 370 AD gene.

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	Exon rank	MANE	Protein	UniProt
RPS29	NM_001032.5 link	c.163-5_163-4dupTT	splice_region_variant, intron_variant	Intron 2 of 2	ENST00000245458.11	NP_001023.1	P62273-1
RPS29	NM_001030001.4 link	c.162+2270_162+2271dupTT	intron_variant	Intron 2 of 2		NP_001025172.1	P62273-2
RPS29	NM_001351375.2 link	c.154-5_154-4dupTT	splice_region_variant, intron_variant	Intron 2 of 2		NP_001338304.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RPS29	ENST00000245458.11 link	c.163-4_163-3insTT		splice_region_variant, intron_variant	Intron 2 of 2	1	NM_001032.5	ENSP00000245458.7		P62273-1

Frequencies

GnomAD3 genomes

AF:

0.00

AC:

AN:

138348

Hom.:

Cov.:

FAILED QC

Gnomad AFR

AF:

0.00

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.00

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.00

Gnomad OTH

AF:

0.00

GnomAD3 exomes

AF:

0.000498

AC:

AN:

88432

Hom.:

AF XY:

0.000484

AC XY:

AN XY:

47522

show subpopulations

Gnomad AFR exome

AF:

0.00126

Gnomad AMR exome

AF:

0.000764

Gnomad ASJ exome

AF:

0.000654

Gnomad EAS exome

AF:

0.000916

Gnomad SAS exome

AF:

0.000720

Gnomad FIN exome

AF:

0.000105

Gnomad NFE exome

AF:

0.000284

Gnomad OTH exome

AF:

0.000501

GnomAD4 exome

AF:

0.000364

AC:

370

AN:

1016184

Hom.:

Cov.:

AF XY:

0.000314

AC XY:

160

AN XY:

508922

show subpopulations

Gnomad4 AFR exome

AF:

0.000581

Gnomad4 AMR exome

AF:

0.000242

Gnomad4 ASJ exome

AF:

0.000164

Gnomad4 EAS exome

AF:

0.000182

Gnomad4 SAS exome

AF:

0.000287

Gnomad4 FIN exome

AF:

0.000127

Gnomad4 NFE exome

AF:

0.000390

Gnomad4 OTH exome

AF:

0.000410

GnomAD4 genome

Data not reliable, filtered out with message: AC0

AF:

0.00

AC:

AN:

138348

Hom.:

Cov.:

AF XY:

0.00

AC XY:

AN XY:

66728

Gnomad4 AFR

AF:

0.00

Gnomad4 AMR

AF:

0.00

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.00

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.00

Gnomad4 OTH

AF:

0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

14-49583678-GAAAA-GAAAAAA

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over