chr18-26205684-A-T

Variant names:

• chr18-26205684-A-T
• rs8097810
• ENST00000578162.1:n.647A>T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000578162.1(NPM1P2):​n.647A>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000421 in 237,338 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: not found (cov: 32)
  • Exomes 𝑓: 0.0000042 (0 hom.)
• Consequence: NPM1P2 ENST00000578162.1 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.678
• Publications: 0 publications found

Genes affected

NPM1P2 (HGNC:7922): (nucleophosmin 1 pseudogene 2)

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000578162.1. 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

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NPM1P2	ENST00000578162.1	TSL:6	n.647A>T		non_coding_transcript_exon	Exon 3 of 3

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome AF: 0.00000421 AC: 1 AN: 237338 Hom.: 0 Cov.: 0 AF XY: 0.00000734 AC XY: 1 AN XY: 136322

⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.00 AC: 0 AN: 5954

American (AMR) AF: 0.00 AC: 0 AN: 12310

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 6526

East Asian (EAS) AF: 0.00 AC: 0 AN: 10114

South Asian (SAS) AF: 0.0000231 AC: 1 AN: 43252

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 9578

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 858

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 137212

Other (OTH) AF: 0.00 AC: 0 AN: 11534

⚠️ The allele balance in gnomAD4 Exomes is highly skewed from 0.5 (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.1
DANN	Benign	0.63
PhyloP100		-0.68

Splicing

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

Other links and lift over

dbSNP: rs8097810; hg19: chr18-23785648;