rs7164030

Variant names:

• chr15-78552319-G-A
• rs7164030
• NM_002789.6:c.*3375G>A

Your query was ambiguous. Multiple possible variants found:

• chr15-78552319-G-A
• chr15-78552319-G-C
• chr15-78552319-G-T

Variant summary

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

The NM_002789.6(PSMA4):​c.*3375G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.667 in 152,080 control chromosomes in the GnomAD database, including 34,535 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 0.67 (34535 hom., cov: 33)
  • Failed GnomAD Quality Control
• Consequence: PSMA4 NM_002789.6 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.101
• Publications: 17 publications found

Genes affected

PSMA4 (HGNC:9533): (proteasome 20S subunit alpha 4) This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.815 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PSMA4	NM_002789.6	c.*3375G>A		3_prime_UTR_variant	Exon 9 of 9	ENST00000044462.12	NP_002780.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PSMA4	ENST00000044462.12	c.*3375G>A		3_prime_UTR_variant	Exon 9 of 9	1	NM_002789.6	ENSP00000044462.7

Frequencies

GnomAD3 genomes AF: 0.667 AC: 101297 AN: 151962 Hom.: 34491 Cov.: 33

Gnomad AFR AF: 0.773

Gnomad AMI AF: 0.568

Gnomad AMR AF: 0.759

Gnomad ASJ AF: 0.646

Gnomad EAS AF: 0.835

Gnomad SAS AF: 0.665

Gnomad FIN AF: 0.620

Gnomad MID AF: 0.791

Gnomad NFE AF: 0.577

Gnomad OTH AF: 0.677

GnomAD4 exome Data not reliable, filtered out with message: AC0 AC: 0 AN: 0 Hom.: 0 Cov.: 0 AC XY: 0 AN XY: 0

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) AC: 0 AN: 0

Middle Eastern (MID) AC: 0 AN: 0

European-Non Finnish (NFE) AC: 0 AN: 0

Other (OTH) AC: 0 AN: 0

GnomAD4 genome AF: 0.667 AC: 101400 AN: 152080 Hom.: 34535 Cov.: 33 AF XY: 0.671 AC XY: 49873 AN XY: 74328

African (AFR) AF: 0.773 AC: 32066 AN: 41490

American (AMR) AF: 0.760 AC: 11607 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.646 AC: 2242 AN: 3472

East Asian (EAS) AF: 0.835 AC: 4336 AN: 5190

South Asian (SAS) AF: 0.666 AC: 3214 AN: 4826

European-Finnish (FIN) AF: 0.620 AC: 6548 AN: 10558

Middle Eastern (MID) AF: 0.786 AC: 231 AN: 294

European-Non Finnish (NFE) AF: 0.577 AC: 39209 AN: 67946

Other (OTH) AF: 0.675 AC: 1429 AN: 2116

Alfa AF: 0.516 Hom.: 1658

Bravo AF: 0.681

Asia WGS AF: 0.730 AC: 2540 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	1.2
DANN	Benign	0.64
PhyloP100		-0.10

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: rs7164030; hg19: chr15-78844661;