chr19-34740793-TTC-CTG

Variant names:

• chr19-34740793-TTC-CTG
• NM_001029997.4:c.412_414delTTCinsCTG
• ZNF181 p.Phe138Leu

Variant summary

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

The NM_001029997.4(ZNF181):​c.412_414delTTCinsCTG​(p.Phe138Leu) 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: ZNF181 NM_001029997.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.440
• Publications: 0 publications found

Genes affected

ZNF181 (HGNC:12971): (zinc finger protein 181) Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001029997.4. 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
	ZNF181	NM_001029997.4	MANE Select	c.412_414delTTCinsCTG	p.Phe138Leu	missense	N/A	NP_001025168.2	Q2M3W8-1
	ZNF181	NM_001145665.2		c.409_411delTTCinsCTG	p.Phe137Leu	missense	N/A	NP_001139137.1	Q2M3W8-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF181	ENST00000492450.3	TSL:1 MANE Select	c.412_414delTTCinsCTG	p.Phe138Leu	missense	N/A	ENSP00000420727.1	Q2M3W8-1
	ZNF181	ENST00000459757.6	TSL:1	c.409_411delTTCinsCTG	p.Phe137Leu	missense	N/A	ENSP00000419435.1	Q2M3W8-3
	ZNF181	ENST00000392232.7	TSL:5	c.544_546delTTCinsCTG	p.Phe182Leu	missense	N/A	ENSP00000376065.3	F8W889

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		0.44

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: chr19-35231698;