ENST00000654404.1:n.980-8810C>T

Variant names:

• chr4-134112327-G-A
• rs10518647
• ENST00000654404.1:n.980-8810C>T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000654404.1(ENSG00000251199):​n.980-8810C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0346 in 151,876 control chromosomes in the GnomAD database, including 665 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 0.035 (665 hom., cov: 32)
• Consequence: ENSG00000251199 ENST00000654404.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.206

Genes affected

ENSG00000251199 (HGNC:):

PABPC4L (HGNC:31955): (poly(A) binding protein cytoplasmic 4 like) Predicted to enable mRNA 3'-UTR binding activity; poly(A) binding activity; and poly(U) RNA binding activity. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasmic stress granule; cytosol; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.426 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PABPC4L	XR_001741133.2	n.2015-8810C>T		intron_variant	Intron 2 of 7
PABPC4L	XR_001741134.2	n.1693-8810C>T		intron_variant	Intron 2 of 8
PABPC4L	XR_001741135.2	n.1693-8810C>T		intron_variant	Intron 2 of 7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000251199	ENST00000654404.1	n.980-8810C>T		intron_variant	Intron 6 of 7
ENSG00000251199	ENST00000658033.1	n.544-8810C>T		intron_variant	Intron 3 of 4
ENSG00000251199	ENST00000658435.1	n.412-8810C>T		intron_variant	Intron 2 of 3

Frequencies

GnomAD3 genomes AF: 0.0346 AC: 5249 AN: 151756 Hom.: 662 Cov.: 32

Gnomad AFR AF: 0.00575

Gnomad AMI AF: 0.00440

Gnomad AMR AF: 0.0986

Gnomad ASJ AF: 0.0199

Gnomad EAS AF: 0.441

Gnomad SAS AF: 0.0744

Gnomad FIN AF: 0.0449

Gnomad MID AF: 0.00318

Gnomad NFE AF: 0.00403

Gnomad OTH AF: 0.0337

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

GnomAD4 genome AF: 0.0346 AC: 5259 AN: 151876 Hom.: 665 Cov.: 32 AF XY: 0.0403 AC XY: 2994 AN XY: 74220

Gnomad4 AFR AF: 0.00574

Gnomad4 AMR AF: 0.0987

Gnomad4 ASJ AF: 0.0199

Gnomad4 EAS AF: 0.441

Gnomad4 SAS AF: 0.0734

Gnomad4 FIN AF: 0.0449

Gnomad4 NFE AF: 0.00403

Gnomad4 OTH AF: 0.0414

Alfa AF: 0.00898 Hom.: 87

Bravo AF: 0.0383

Asia WGS AF: 0.246 AC: 851 AN: 3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.1
DANN	Benign	0.77

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10518647; hg19: chr4-135033482;