rs385680

Variant names:

• chr19-29929307-A-G
• rs385680
• ENST00000360605.8:c.63+5553A>G

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The ENST00000360605.8(URI1):​c.63+5553A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000986 in 152,152 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: 𝑓 0.00099 (0 hom., cov: 32)
• Consequence: URI1 ENST00000360605.8 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.423
• Publications: 1 publications found

Genes affected

URI1 (HGNC:13236): (URI1 prefoldin like chaperone) This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
URI1	NM_001252641.2	c.63+5553A>G		intron_variant	Intron 1 of 10		NP_001239570.1
URI1	XM_005259362.3	c.63+5553A>G		intron_variant	Intron 1 of 10		XP_005259419.1
URI1	XM_011527435.3	c.8+5553A>G		intron_variant	Intron 1 of 9		XP_011525737.1
URI1	XM_047439595.1	c.-169+5553A>G		intron_variant	Intron 1 of 10		XP_047295551.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
URI1	ENST00000360605.8	c.63+5553A>G		intron_variant	Intron 1 of 10	1		ENSP00000353817.4
URI1	ENST00000574233.5	c.-208+5553A>G		intron_variant	Intron 1 of 5	3		ENSP00000458480.1
URI1	ENST00000570564.5	c.-318+5553A>G		intron_variant	Intron 1 of 4	4		ENSP00000459966.1
URI1	ENST00000574766.1	n.43+5553A>G		intron_variant	Intron 1 of 1	3

Frequencies

GnomAD3 genomes AF: 0.000960 AC: 146 AN: 152034 Hom.: 0 Cov.: 32

Gnomad AFR AF: 0.00331

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000525

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: 0.0000147

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.000986 AC: 150 AN: 152152 Hom.: 0 Cov.: 32 AF XY: 0.000928 AC XY: 69 AN XY: 74384

African (AFR) AF: 0.00340 AC: 141 AN: 41496

American (AMR) AF: 0.000524 AC: 8 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3472

East Asian (EAS) AF: 0.00 AC: 0 AN: 5174

South Asian (SAS) AF: 0.00 AC: 0 AN: 4808

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10608

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 294

European-Non Finnish (NFE) AF: 0.0000147 AC: 1 AN: 68008

Other (OTH) AF: 0.00 AC: 0 AN: 2110

Alfa AF: 0.000712 Hom.: 0

Bravo AF: 0.00104

Asia WGS AF: 0.000289 AC: 1 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	5.6
DANN	Benign	0.86
PhyloP100		0.42

Splicing

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

Other links and lift over

dbSNP: rs385680; hg19: chr19-30420214;