rs2052584

Variant names:

• chr16-71655074-G-A
• rs2052584
• NM_015020.3:c.2585+166C>T

Your query was ambiguous. Multiple possible variants found:

• chr16-71655074-G-A
• chr16-71655074-G-C

Variant summary

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

The NM_015020.3(PHLPP2):​c.2585+166C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.86 in 556,132 control chromosomes in the GnomAD database, including 206,723 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 0.85 (54726 hom., cov: 33)
  • Exomes 𝑓: 0.87 (151997 hom.)
• Consequence: PHLPP2 NM_015020.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.39
• Publications: 3 publications found

Genes affected

PHLPP2 (HGNC:29149): (PH domain and leucine rich repeat protein phosphatase 2) Predicted to enable protein serine/threonine phosphatase activity. Predicted to be involved in signal transduction. Located in several cellular components, including intercellular bridge; mitotic spindle; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000260185 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.968 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_015020.3. 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
	PHLPP2	NM_015020.3	MANE Select	c.2585+166C>T		intron	N/A	NP_055835.2	Q6ZVD8-1
	PHLPP2	NM_001289003.1		c.2384+166C>T		intron	N/A	NP_001275932.1	Q6ZVD8-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PHLPP2	ENST00000568954.5	TSL:1 MANE Select	c.2585+166C>T		intron	N/A	ENSP00000457991.1	Q6ZVD8-1
	PHLPP2	ENST00000568004.5	TSL:1	n.1799+166C>T		intron	N/A	ENSP00000458660.1	I3L187
	PHLPP2	ENST00000567016.1	TSL:5	c.2690+166C>T		intron	N/A	ENSP00000454519.1	H3BMS5

Frequencies

GnomAD3 genomes AF: 0.847 AC: 128786 AN: 152110 Hom.: 54702 Cov.: 33

Gnomad AFR AF: 0.806

Gnomad AMI AF: 0.833

Gnomad AMR AF: 0.903

Gnomad ASJ AF: 0.910

Gnomad EAS AF: 0.991

Gnomad SAS AF: 0.967

Gnomad FIN AF: 0.872

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.831

Gnomad OTH AF: 0.868

GnomAD4 exome AF: 0.865 AC: 349481 AN: 403904 Hom.: 151997 Cov.: 4 AF XY: 0.869 AC XY: 182049 AN XY: 209438

African (AFR) AF: 0.803 AC: 9716 AN: 12104

American (AMR) AF: 0.916 AC: 16309 AN: 17802

Ashkenazi Jewish (ASJ) AF: 0.919 AC: 11548 AN: 12562

East Asian (EAS) AF: 0.990 AC: 30289 AN: 30596

South Asian (SAS) AF: 0.962 AC: 29731 AN: 30912

European-Finnish (FIN) AF: 0.855 AC: 26837 AN: 31376

Middle Eastern (MID) AF: 0.895 AC: 1620 AN: 1810

European-Non Finnish (NFE) AF: 0.835 AC: 202676 AN: 242848

Other (OTH) AF: 0.869 AC: 20755 AN: 23894

GnomAD4 genome AF: 0.846 AC: 128856 AN: 152228 Hom.: 54726 Cov.: 33 AF XY: 0.853 AC XY: 63485 AN XY: 74430

African (AFR) AF: 0.805 AC: 33439 AN: 41518

American (AMR) AF: 0.903 AC: 13806 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.910 AC: 3158 AN: 3472

East Asian (EAS) AF: 0.991 AC: 5143 AN: 5192

South Asian (SAS) AF: 0.967 AC: 4669 AN: 4828

European-Finnish (FIN) AF: 0.872 AC: 9256 AN: 10610

Middle Eastern (MID) AF: 0.881 AC: 259 AN: 294

European-Non Finnish (NFE) AF: 0.831 AC: 56534 AN: 68012

Other (OTH) AF: 0.870 AC: 1836 AN: 2110

Alfa AF: 0.846 Hom.: 9265

Bravo AF: 0.846

Asia WGS AF: 0.957 AC: 3325 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.8
DANN	Benign	0.74
PhyloP100		-1.4
Mutation Taster		=99/1	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: rs2052584; hg19: chr16-71688977;