22-38897180-A-G

Variant names:

• chr22-38897180-A-G
• rs132515
• ENST00000656940.1:n.172-3867A>G

Variant summary

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

The ENST00000656940.1(ENSG00000288106):​n.172-3867A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.705 in 152,184 control chromosomes in the GnomAD database, including 39,535 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 0.71 (39535 hom., cov: 33)
• Consequence: ENSG00000288106 ENST00000656940.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.218
• Publications: 3 publications found

Genes affected

ENSG00000288106 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.915 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105373032	XR_938256.2	n.721+10173A>G		intron_variant	Intron 1 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000288106	ENST00000656940.1	n.172-3867A>G		intron_variant	Intron 1 of 1
ENSG00000288106	ENST00000717626.1	n.408+10173A>G		intron_variant	Intron 2 of 4
ENSG00000288106	ENST00000717627.1	n.504+2437A>G		intron_variant	Intron 4 of 4
ENSG00000288106	ENST00000793132.1	n.479+2437A>G		intron_variant	Intron 4 of 4

Frequencies

GnomAD3 genomes AF: 0.705 AC: 107209 AN: 152066 Hom.: 39486 Cov.: 33

Gnomad AFR AF: 0.923

Gnomad AMI AF: 0.734

Gnomad AMR AF: 0.523

Gnomad ASJ AF: 0.629

Gnomad EAS AF: 0.842

Gnomad SAS AF: 0.678

Gnomad FIN AF: 0.612

Gnomad MID AF: 0.688

Gnomad NFE AF: 0.623

Gnomad OTH AF: 0.675

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

GnomAD4 genome AF: 0.705 AC: 107306 AN: 152184 Hom.: 39535 Cov.: 33 AF XY: 0.702 AC XY: 52205 AN XY: 74396

African (AFR) AF: 0.923 AC: 38373 AN: 41564

American (AMR) AF: 0.523 AC: 7995 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.629 AC: 2184 AN: 3470

East Asian (EAS) AF: 0.842 AC: 4360 AN: 5180

South Asian (SAS) AF: 0.677 AC: 3273 AN: 4832

European-Finnish (FIN) AF: 0.612 AC: 6468 AN: 10574

Middle Eastern (MID) AF: 0.685 AC: 200 AN: 292

European-Non Finnish (NFE) AF: 0.623 AC: 42358 AN: 67960

Other (OTH) AF: 0.676 AC: 1427 AN: 2112

Alfa AF: 0.656 Hom.: 3931

Bravo AF: 0.705

Asia WGS AF: 0.745 AC: 2592 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	6.4
DANN	Benign	0.71
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs132515; hg19: chr22-39293185;