rs193921016

Variant names:

• chr19-21727904-TC-T
• rs193921016
• NM_173531.4:c.407delG

Variant summary

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

The NM_173531.4(ZNF100):​c.407delG​(p.Gly136GlufsTer30) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (no stars).

• Frequency: Genomes: not found (cov: 33)
• Consequence: ZNF100 NM_173531.4 frameshift
• Clinical Significance: Uncertain significance no assertion criteria provided U:1
• Conservation: PhyloP100: 0.188
• Publications: 0 publications found

Genes affected

ZNF100 (HGNC:12880): (zinc finger protein 100) 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, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

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_173531.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF100	NM_173531.4	MANE Select	c.407delG	p.Gly136GlufsTer30	frameshift	Exon 5 of 5	NP_775802.2
	ZNF100	NM_001351669.2		c.404delG	p.Gly135GlufsTer30	frameshift	Exon 5 of 5	NP_001338598.1
	ZNF100	NM_001351670.2		c.308delG	p.Gly103GlufsTer30	frameshift	Exon 4 of 4	NP_001338599.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF100	ENST00000358296.11	TSL:1 MANE Select	c.407delG	p.Gly136GlufsTer30	frameshift	Exon 5 of 5	ENSP00000351042.5
	ZNF100	ENST00000305570.10	TSL:1	c.215delG	p.Gly72GlufsTer30	frameshift	Exon 4 of 4	ENSP00000445201.3
	ZNF100	ENST00000594401.1	TSL:4	c.*26delG		downstream_gene	N/A	ENSP00000471371.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 34

GnomAD4 genome Cov.: 33

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: no assertion criteria provided

Submissions by phenotype

Prostate cancer Uncertain:1

Science for Life laboratory, Karolinska Institutet

Significance: Uncertain significance

Review Status: no assertion criteria provided

Collection Method: literature only

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.19

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs193921016; hg19: chr19-21910706;