19-19680067-CAT-CATAT

Variant names:

• chr19-19680067-C-CAT
• rs34704748
• NM_033204.4:c.1080_1081dupTA

Variant summary

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

The NM_033204.4(ZNF101):​c.1080_1081dupTA​(p.Ser361IlefsTer27) variant causes a frameshift change. 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: ZNF101 NM_033204.4 frameshift
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 6.74
• Publications: 6 publications found

Genes affected

ZNF101 (HGNC:12881): (zinc finger protein 101) Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 2010]

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_033204.4. 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
	ZNF101	NM_033204.4	MANE Select	c.1080_1081dupTA	p.Ser361IlefsTer27	frameshift	Exon 4 of 4	NP_149981.2
	ZNF101	NM_001300949.2		c.720_721dupTA	p.Ser241IlefsTer27	frameshift	Exon 4 of 4	NP_001287878.1	Q8IZC7-2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF101	ENST00000592502.2	TSL:1 MANE Select	c.1080_1081dupTA	p.Ser361IlefsTer27	frameshift	Exon 4 of 4	ENSP00000468049.1	Q8IZC7-1
	ZNF101	ENST00000415784.6	TSL:1	c.720_721dupTA	p.Ser241IlefsTer27	frameshift	Exon 5 of 5	ENSP00000400952.2	Q8IZC7-2
	ZNF101	ENST00000318110.9	TSL:5	n.1080_1081dupTA		non_coding_transcript_exon	Exon 4 of 5	ENSP00000319716.5	Q8IZC7-1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 32

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 15

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		6.7

Splicing

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

Other links and lift over

dbSNP: rs34704748; hg19: chr19-19790876;