ZNF320 p.Ala398Ala

Variant names:

• chr19-52880931-A-A
• NM_001351774.2:c.

Your query was ambiguous. Multiple possible variants found:

• chr19-52880932--
• chr19-52880932-C-A
• chr19-52880932-C-G
• chr19-52880932-C-T

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_001351774.2(ZNF320):​c. variant causes a exon region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: ZNF320 NM_001351774.2 exon_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.60
• Publications: 0 publications found

Genes affected

ZNF320 (HGNC:13842): (zinc finger protein 320) ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001351774.2. 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
	ZNF320	NM_001351774.2	MANE Select	c.		exon_region	Exon 6 of 6	NP_001338703.1	A2RRD8
	ZNF320	NM_001351773.2		c.		exon_region	Exon 4 of 4	NP_001338702.1	A2RRD8
	ZNF320	NM_001351775.2		c.		exon_region	Exon 6 of 6	NP_001338704.1	A2RRD8

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF320	ENST00000682928.1	MANE Select	c.		exon_region	Exon 6 of 6	ENSP00000506814.1	A2RRD8
	ZNF320	ENST00000391781.6	TSL:1	c.		exon_region	Exon 3 of 3	ENSP00000375660.2	A2RRD8
	ZNF320	ENST00000595635.5	TSL:2	c.		exon_region	Exon 8 of 8	ENSP00000473091.1	A2RRD8

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 64

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-3.6

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

hg19: chr19-53384184;