rs470206

Variant names:

• chr11-102800447-T-C
• rs470206
• ENST00000371455.7:n.423+2325T>C

Variant summary

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

The ENST00000525739.6(WTAPP1):​n.682+2325T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.977 in 152,254 control chromosomes in the GnomAD database, including 72,748 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 0.98 (72748 hom., cov: 31)
• Consequence: WTAPP1 ENST00000525739.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.547
• Publications: 6 publications found

Genes affected

WTAPP1 (HGNC:):

WTAPP1 (HGNC:44115): (WTAP pseudogene 1)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.99 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000525739.6. 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
	WTAPP1	NR_038390.1		n.682+2325T>C		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	WTAPP1	ENST00000371455.7	TSL:4	n.423+2325T>C		intron	N/A
	WTAPP1	ENST00000525739.6	TSL:2	n.682+2325T>C		intron	N/A
	WTAPP1	ENST00000544704.1	TSL:4	n.443+2325T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.977 AC: 148583 AN: 152136 Hom.: 72689 Cov.: 31

Gnomad AFR AF: 0.997

Gnomad AMI AF: 1.00

Gnomad AMR AF: 0.905

Gnomad ASJ AF: 0.982

Gnomad EAS AF: 0.888

Gnomad SAS AF: 0.968

Gnomad FIN AF: 0.919

Gnomad MID AF: 0.991

Gnomad NFE AF: 0.996

Gnomad OTH AF: 0.974

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

GnomAD4 genome AF: 0.977 AC: 148699 AN: 152254 Hom.: 72748 Cov.: 31 AF XY: 0.970 AC XY: 72208 AN XY: 74412

African (AFR) AF: 0.997 AC: 41423 AN: 41560

American (AMR) AF: 0.905 AC: 13832 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.982 AC: 3409 AN: 3472

East Asian (EAS) AF: 0.888 AC: 4586 AN: 5164

South Asian (SAS) AF: 0.968 AC: 4671 AN: 4826

European-Finnish (FIN) AF: 0.919 AC: 9736 AN: 10592

Middle Eastern (MID) AF: 0.990 AC: 291 AN: 294

European-Non Finnish (NFE) AF: 0.996 AC: 67787 AN: 68038

Other (OTH) AF: 0.974 AC: 2052 AN: 2106

Alfa AF: 0.979 Hom.: 48136

Bravo AF: 0.975

Asia WGS AF: 0.945 AC: 3284 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.39
DANN	Benign	0.32
PhyloP100		-0.55

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs470206;

hg19: chr11-102671178;