19-37564973-AC-GT

Variant names:

• chr19-37564973-AC-GT
• NM_016536.5:c.1454_1455delGTinsAC
• ZNF571 p.Arg485His

Variant summary

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

The NM_016536.5(ZNF571):​c.1454_1455delGTinsAC​(p.Arg485His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type MNV, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: ZNF571 NM_016536.5 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 0 publications found

Genes affected

ZNF571 (HGNC:25000): (zinc finger protein 571) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ZNF571-AS1 (HGNC:44324): (ZNF571 antisense RNA 1)

ZNF540 (HGNC:25331): (zinc finger protein 540) Enables translation repressor activity, mRNA regulatory element binding. Involved in negative regulation of transcription, DNA-templated and negative regulation of translation. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_016536.5. 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
	ZNF571	NM_016536.5	MANE Select	c.1454_1455delGTinsAC	p.Arg485His	missense	N/A	NP_057620.3
	ZNF571	NM_001290314.2		c.1454_1455delGTinsAC	p.Arg485His	missense	N/A	NP_001277243.1	Q7Z3V5
	ZNF571	NM_001321272.2		c.1454_1455delGTinsAC	p.Arg485His	missense	N/A	NP_001308201.1	Q7Z3V5

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF571	ENST00000451802.7	TSL:1 MANE Select	c.1454_1455delGTinsAC	p.Arg485His	missense	N/A	ENSP00000392638.1	Q7Z3V5
	ZNF571	ENST00000593133.5	TSL:1	c.1454_1455delGTinsAC	p.Arg485His	missense	N/A	ENSP00000467572.1	Q7Z3V5
	ZNF571-AS1	ENST00000585578.5	TSL:1	n.210-1058_210-1057delACinsGT		intron	N/A

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-1.2

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: chr19-38055875;