rs1057519428

Variant names:

• chr17-4944792-CG-C
• rs1057519428
• NM_015528.3:c.833delG

Your query was ambiguous. Multiple possible variants found:

• chr17-4944792-CG-C
• chr17-4944792-CG-CGG

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_015528.3(RNF167):​c.833delG​(p.Gly278ValfsTer47) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,004 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0000014 (0 hom.)
• Consequence: RNF167 NM_015528.3 frameshift
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.563
• Publications: 0 publications found

Genes affected

RNF167 (HGNC:24544): (ring finger protein 167) RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_015528.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RNF167	NM_015528.3	MANE Select	c.833delG	p.Gly278ValfsTer47	frameshift	Exon 10 of 10	NP_056343.1	Q9H6Y7-1
	RNF167	NM_001370303.1		c.905delG	p.Gly302ValfsTer47	frameshift	Exon 11 of 11	NP_001357232.1
	RNF167	NM_001370304.1		c.905delG	p.Gly302ValfsTer47	frameshift	Exon 12 of 12	NP_001357233.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	RNF167	ENST00000262482.11	TSL:2 MANE Select	c.833delG	p.Gly278ValfsTer47	frameshift	Exon 10 of 10	ENSP00000262482.6	Q9H6Y7-1
	RNF167	ENST00000575111.5	TSL:1	c.833delG	p.Gly278ValfsTer47	frameshift	Exon 9 of 9	ENSP00000460190.1	Q9H6Y7-1
	RNF167	ENST00000868718.1		c.905delG	p.Gly302ValfsTer47	frameshift	Exon 11 of 11	ENSP00000538777.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000137 AC: 2 AN: 1460004 Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1 AN XY: 726250

African (AFR) AF: 0.00 AC: 0 AN: 33432

American (AMR) AF: 0.00 AC: 0 AN: 44504

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 25938

East Asian (EAS) AF: 0.00 AC: 0 AN: 39678

South Asian (SAS) AF: 0.00 AC: 0 AN: 86046

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 53374

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 5746

European-Non Finnish (NFE) AF: 0.00000180 AC: 2 AN: 1110982

Other (OTH) AF: 0.00 AC: 0 AN: 60304

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.56

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: rs1057519428; hg19: chr17-4848087;