22-30185733-C-T

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The ENST00000432360.2(ENSG00000225676):n.247-952G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.298 in 151,954 control chromosomes in the GnomAD database, including 7,782 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 0.30 (7782 hom., cov: 32)
• Consequence: ENST00000432360.2 intron, non_coding_transcript
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0680

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.25).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.559 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LOC105372988	XR_938153.4	n.247-952G>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
	ENST00000432360.2	n.247-952G>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.298 AC: 45273 AN: 151838 Hom.: 7793 Cov.: 32

Gnomad AFR AF: 0.146

Gnomad AMI AF: 0.318

Gnomad AMR AF: 0.288

Gnomad ASJ AF: 0.376

Gnomad EAS AF: 0.577

Gnomad SAS AF: 0.132

Gnomad FIN AF: 0.307

Gnomad MID AF: 0.231

Gnomad NFE AF: 0.377

Gnomad OTH AF: 0.322

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

GnomAD4 genome AF: 0.298 AC: 45250 AN: 151954 Hom.: 7782 Cov.: 32 AF XY: 0.291 AC XY: 21568 AN XY: 74242

Gnomad4 AFR AF: 0.146

Gnomad4 AMR AF: 0.287

Gnomad4 ASJ AF: 0.376

Gnomad4 EAS AF: 0.576

Gnomad4 SAS AF: 0.132

Gnomad4 FIN AF: 0.307

Gnomad4 NFE AF: 0.377

Gnomad4 OTH AF: 0.317

Alfa AF: 0.372 Hom.: 17166

Bravo AF: 0.300

Asia WGS AF: 0.312 AC: 1085 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.25
Cadd	Benign	18
Dann	Benign	0.61

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5753037; hg19: chr22-30581722;