22-36191797-ACT-ACTCT

Variant names:

• chr22-36191797-A-ACT
• rs5845253
• NM_001386885.1:c.323_324dupAG

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP6_Moderate

The NM_001386885.1(APOL4):​c.323_324dupAG​(p.Phe109SerfsTer13) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Likely benign (★).

• Frequency: Genomes: not found (cov: 0)
• Consequence: APOL4 NM_001386885.1 frameshift
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.263
• Publications: 10 publications found

Genes affected

APOL4 (HGNC:14867): (apolipoprotein L4) This gene encodes a member of the apolipoprotein L family. The encoded protein may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2020]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• BP6: Variant 22-36191797-A-ACT is Benign according to our data. Variant chr22-36191797-A-ACT is described in ClinVar as Likely_benign. ClinVar VariationId is 445778.Status of the report is criteria_provided_single_submitter, 1 stars.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001386885.1. 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
	APOL4	NM_001386885.1	MANE Select	c.323_324dupAG	p.Phe109SerfsTer13	frameshift	Exon 4 of 4	NP_001373814.1	Q9BPW4-2
	APOL4	NM_145660.2		c.332_333dupAG	p.Phe112SerfsTer13	frameshift	Exon 5 of 5	NP_663693.1	Q9BPW4-1
	APOL4	NM_030643.4		c.323_324dupAG	p.Phe109SerfsTer13	frameshift	Exon 6 of 6	NP_085146.2	Q9BPW4-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	APOL4	ENST00000683024.1	MANE Select	c.323_324dupAG	p.Phe109SerfsTer13	frameshift	Exon 4 of 4	ENSP00000507418.1	Q9BPW4-2
	APOL4	ENST00000352371.5	TSL:1	c.332_333dupAG	p.Phe112SerfsTer13	frameshift	Exon 5 of 5	ENSP00000338260.3	Q9BPW4-1
	APOL4	ENST00000616056.4	TSL:1	c.323_324dupAG	p.Phe109SerfsTer13	frameshift	Exon 6 of 6	ENSP00000483497.1	Q9BPW4-2

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD2 exomes AF: 0.556 AC: 138429 AN: 249174 AF XY: 0.550

Gnomad AFR exome AF: 0.773

Gnomad AMR exome AF: 0.559

Gnomad ASJ exome AF: 0.485

Gnomad EAS exome AF: 0.835

Gnomad FIN exome AF: 0.555

Gnomad NFE exome AF: 0.487

Gnomad OTH exome AF: 0.532

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

Alfa AF: 0.248 Hom.: 1777

Asia WGS AF: 0.697 AC: 2417 AN: 3478

EpiCase AF: 0.486

EpiControl AF: 0.487

ClinVar

ClinVar submissions

Significance: Likely benign

Revision: criteria provided, single submitter

Pathogenic	VUS	Benign	Condition
-	-	1	not provided (1)

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.26

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: rs5845253;

hg19: chr22-36587845;