rs9638214

Variant names:

• chr7-64976080-A-C
• rs9638214
• NM_015852.5:c.*2039T>G

Your query was ambiguous. Multiple possible variants found:

• chr7-64976080-A-C
• chr7-64976080-A-G
• chr7-64976080-A-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_015852.5(ZNF117):​c.*2039T>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: ZNF117 NM_015852.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.75
• Publications: 3 publications found

Genes affected

ZNF117 (HGNC:12897): (zinc finger protein 117) This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein. [provided by RefSeq, Jan 2017]

ERV3-1-ZNF117 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ZNF117	NM_015852.5	c.*2039T>G		3_prime_UTR_variant	Exon 4 of 4	ENST00000282869.11	NP_056936.2
ERV3-1-ZNF117	NM_001348050.2	c.*2039T>G		3_prime_UTR_variant	Exon 4 of 4		NP_001334979.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF117	ENST00000282869.11	c.*2039T>G		3_prime_UTR_variant	Exon 4 of 4	1	NM_015852.5	ENSP00000282869.5
ZNF117	ENST00000714026.1	c.*2039T>G		3_prime_UTR_variant	Exon 4 of 4			ENSP00000519316.1
ZNF117	ENST00000714027.1	c.*2039T>G		3_prime_UTR_variant	Exon 5 of 5			ENSP00000519317.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 5521

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.88
PhyloP100		-1.8
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		0.94

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: rs9638214; hg19: chr7-64436458;