rs9302998

Variant names:

• chr17-76215788-G-A
• rs9302998
• NM_052916.3:c.89-3306C>T

Your query was ambiguous. Multiple possible variants found:

• chr17-76215788-G-A
• chr17-76215788-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_052916.3(RNF157):​c.89-3306C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.543 in 152,042 control chromosomes in the GnomAD database, including 23,951 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 0.54 (23951 hom., cov: 32)
• Consequence: RNF157 NM_052916.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365
• Publications: 7 publications found

Genes affected

RNF157 (HGNC:29402): (ring finger protein 157) Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including negative regulation of signal transduction; positive regulation of dendrite extension; and protein autoubiquitination. Predicted to be located in cell body. Predicted to be active in early endosome; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.75 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_052916.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RNF157	NM_052916.3	MANE Select	c.89-3306C>T		intron	N/A	NP_443148.1
	RNF157	NM_001438721.1		c.89-3306C>T		intron	N/A	NP_001425650.1
	RNF157	NM_001330501.2		c.89-3306C>T		intron	N/A	NP_001317430.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RNF157	ENST00000269391.11	TSL:1 MANE Select	c.89-3306C>T		intron	N/A	ENSP00000269391.4
	RNF157	ENST00000647930.1		c.89-3306C>T		intron	N/A	ENSP00000497353.1
	RNF157	ENST00000319945.10	TSL:2	c.89-3306C>T		intron	N/A	ENSP00000321837.4

Frequencies

GnomAD3 genomes AF: 0.543 AC: 82422 AN: 151922 Hom.: 23904 Cov.: 32

Gnomad AFR AF: 0.757

Gnomad AMI AF: 0.464

Gnomad AMR AF: 0.502

Gnomad ASJ AF: 0.444

Gnomad EAS AF: 0.501

Gnomad SAS AF: 0.424

Gnomad FIN AF: 0.456

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.453

Gnomad OTH AF: 0.538

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

GnomAD4 genome AF: 0.543 AC: 82526 AN: 152042 Hom.: 23951 Cov.: 32 AF XY: 0.541 AC XY: 40193 AN XY: 74330

African (AFR) AF: 0.757 AC: 31431 AN: 41504

American (AMR) AF: 0.502 AC: 7662 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.444 AC: 1539 AN: 3468

East Asian (EAS) AF: 0.500 AC: 2580 AN: 5156

South Asian (SAS) AF: 0.426 AC: 2054 AN: 4822

European-Finnish (FIN) AF: 0.456 AC: 4811 AN: 10556

Middle Eastern (MID) AF: 0.432 AC: 126 AN: 292

European-Non Finnish (NFE) AF: 0.453 AC: 30765 AN: 67946

Other (OTH) AF: 0.538 AC: 1137 AN: 2114

Alfa AF: 0.485 Hom.: 51091

Bravo AF: 0.556

Asia WGS AF: 0.456 AC: 1587 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.9
DANN	Benign	0.63
PhyloP100		0.36
Mutation Taster		=100/0	polymorphism (auto)

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: rs9302998; hg19: chr17-74211869;