chr17-48927831-A-G

Variant names:

• chr17-48927831-A-G
• rs15563
• NM_023079.5:c.*697A>G

Variant summary

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

The NM_023079.5(UBE2Z):​c.*697A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.412 in 152,490 control chromosomes in the GnomAD database, including 15,508 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 0.41 (15428 hom., cov: 31)
  • Exomes 𝑓: 0.57 (80 hom.)
• Consequence: UBE2Z NM_023079.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.302
• Publications: 58 publications found

Genes affected

UBE2Z (HGNC:25847): (ubiquitin conjugating enzyme E2 Z) This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.691 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_023079.5. 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
	UBE2Z	NM_023079.5	MANE Select	c.*697A>G		3_prime_UTR	Exon 7 of 7	NP_075567.2

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	UBE2Z	ENST00000360943.10	TSL:1 MANE Select	c.*697A>G		3_prime_UTR	Exon 7 of 7	ENSP00000354201.5
	UBE2Z	ENST00000513342.5	TSL:2	n.3027A>G		non_coding_transcript_exon	Exon 5 of 5

Frequencies

GnomAD3 genomes AF: 0.412 AC: 62601 AN: 151894 Hom.: 15434 Cov.: 31

Gnomad AFR AF: 0.132

Gnomad AMI AF: 0.585

Gnomad AMR AF: 0.413

Gnomad ASJ AF: 0.507

Gnomad EAS AF: 0.710

Gnomad SAS AF: 0.507

Gnomad FIN AF: 0.543

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.524

Gnomad OTH AF: 0.438

GnomAD4 exome AF: 0.567 AC: 271 AN: 478 Hom.: 80 Cov.: 0 AF XY: 0.561 AC XY: 165 AN XY: 294

African (AFR) AC: 0 AN: 0

American (AMR) AC: 0 AN: 0

Ashkenazi Jewish (ASJ) AC: 0 AN: 0

East Asian (EAS) AC: 0 AN: 0

South Asian (SAS) AC: 0 AN: 0

European-Finnish (FIN) AF: 0.563 AC: 241 AN: 428

Middle Eastern (MID) AF: 0.500 AC: 1 AN: 2

European-Non Finnish (NFE) AF: 0.595 AC: 25 AN: 42

Other (OTH) AF: 0.667 AC: 4 AN: 6

GnomAD4 genome AF: 0.412 AC: 62589 AN: 152012 Hom.: 15428 Cov.: 31 AF XY: 0.415 AC XY: 30862 AN XY: 74304

African (AFR) AF: 0.132 AC: 5464 AN: 41472

American (AMR) AF: 0.413 AC: 6299 AN: 15266

Ashkenazi Jewish (ASJ) AF: 0.507 AC: 1760 AN: 3468

East Asian (EAS) AF: 0.710 AC: 3669 AN: 5168

South Asian (SAS) AF: 0.507 AC: 2440 AN: 4816

European-Finnish (FIN) AF: 0.543 AC: 5741 AN: 10564

Middle Eastern (MID) AF: 0.456 AC: 134 AN: 294

European-Non Finnish (NFE) AF: 0.524 AC: 35622 AN: 67948

Other (OTH) AF: 0.441 AC: 928 AN: 2106

Alfa AF: 0.491 Hom.: 62227

Bravo AF: 0.393

Asia WGS AF: 0.551 AC: 1914 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	7.5
DANN	Benign	0.70
PhyloP100		0.30
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: rs15563; hg19: chr17-47005193;