1-241750006-T-G

Variant names:

• chr1-241750006-T-G
• rs6429302
• NM_001367482.1:c.1770+284T>G

Variant summary

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

The NM_001367482.1(WDR64):​c.1770+284T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.15 in 152,218 control chromosomes in the GnomAD database, including 1,900 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 0.15 (1900 hom., cov: 32)
• Consequence: WDR64 NM_001367482.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.805
• Publications: 2 publications found

Genes affected

WDR64 (HGNC:26570): (WD repeat domain 64)

ENSG00000288723 (HGNC:):

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 (AFR) allele frequency at 95% confidence interval = 0.182 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001367482.1. 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
	WDR64	NM_001367482.1	MANE Select	c.1770+284T>G		intron	N/A	NP_001354411.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	WDR64	ENST00000437684.7	TSL:1 MANE Select	c.1770+284T>G		intron	N/A	ENSP00000402446.4
	WDR64	ENST00000366552.6	TSL:5	c.1740+284T>G		intron	N/A	ENSP00000355510.2
	WDR64	ENST00000414635.5	TSL:5	c.1053+284T>G		intron	N/A	ENSP00000406656.1

Frequencies

GnomAD3 genomes AF: 0.150 AC: 22752 AN: 152100 Hom.: 1901 Cov.: 32

Gnomad AFR AF: 0.186

Gnomad AMI AF: 0.163

Gnomad AMR AF: 0.123

Gnomad ASJ AF: 0.197

Gnomad EAS AF: 0.00135

Gnomad SAS AF: 0.0284

Gnomad FIN AF: 0.0843

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.162

Gnomad OTH AF: 0.134

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

GnomAD4 genome AF: 0.150 AC: 22768 AN: 152218 Hom.: 1900 Cov.: 32 AF XY: 0.143 AC XY: 10669 AN XY: 74440

African (AFR) AF: 0.186 AC: 7717 AN: 41516

American (AMR) AF: 0.123 AC: 1879 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.197 AC: 684 AN: 3472

East Asian (EAS) AF: 0.00135 AC: 7 AN: 5180

South Asian (SAS) AF: 0.0284 AC: 137 AN: 4822

European-Finnish (FIN) AF: 0.0843 AC: 894 AN: 10610

Middle Eastern (MID) AF: 0.0544 AC: 16 AN: 294

European-Non Finnish (NFE) AF: 0.162 AC: 11004 AN: 68004

Other (OTH) AF: 0.133 AC: 281 AN: 2116

Alfa AF: 0.150 Hom.: 896

Bravo AF: 0.154

Asia WGS AF: 0.0370 AC: 129 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	6.5
DANN	Benign	0.61
PhyloP100		0.81
Mutation Taster		=100/0	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: rs6429302; hg19: chr1-241913308;