ENST00000638723.1:n.257-1695G>C

Variant names:

• chr5-178730774-G-.
• NM_005649.3:c.-270C>.

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_005649.3(ZNF354A):​c.-270C>. variant causes a upstream gene change. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 N/A (N/A hom., cov:)
  • Exomes 𝑓: N/A (N/A hom.)
• Consequence: ZNF354A NM_005649.3 upstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

Genes affected

ZNF354A (HGNC:11628): (zinc finger protein 354A) 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 cytosol; nucleolus; and nucleoplasm. Biomarker of in situ carcinoma and seminoma. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ZNF354A	NM_005649.3	c.-270C>.		upstream_gene_variant		ENST00000335815.7	NP_005640.2
ZNF354A	NM_001324339.2	c.-312C>.		upstream_gene_variant			NP_001311268.1
ZNF354A	XM_017009791.2	c.-296C>.		upstream_gene_variant			XP_016865280.1
ZNF354A	XM_047417644.1	c.-760C>.		upstream_gene_variant			XP_047273600.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF354A	ENST00000335815.7	c.-270C>.		upstream_gene_variant		1	NM_005649.3	ENSP00000337122.2
ZNF354A	ENST00000518048.1	n.-270C>.		upstream_gene_variant		4		ENSP00000428752.1

Frequencies

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

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

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr5-178157775;