ENST00000640275.1:n.238+12171C>A

Variant names:

• chr10-38107216-A-.
• NM_001324250.3:c.16-7539A>.

Variant summary

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

The ENST00000640275.1(PLD5P1):​n.16-7539A>. variant causes a intron 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: PLD5P1 ENST00000640275.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

ZNF37A (HGNC:13102): (zinc finger protein 37A) 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 nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PLD5P1 (HGNC:55072): (PLD5 pseudogene 1) Predicted to be involved in regulation of transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022]

ENSG00000302873 (HGNC:):

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000640275.1. 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
	ZNF37A	NM_001324250.3	MANE Select	c.16-7539A>.		intron	N/A	NP_001311179.1	P17032
	ZNF37A	NM_001007094.4		c.16-7539A>.		intron	N/A	NP_001007095.1	P17032
	ZNF37A	NM_001178101.3		c.16-7539A>.		intron	N/A	NP_001171572.1	P17032

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ZNF37A	ENST00000685332.1	MANE Select	c.16-7539A>.		intron	N/A	ENSP00000508865.1	P17032
	ZNF37A	ENST00000351773.7	TSL:1	c.16-7539A>.		intron	N/A	ENSP00000329141.3	P17032
	PLD5P1	ENST00000640275.1	TSL:5	n.16-7539A>.		intron	N/A	ENSP00000491560.1	A0A1W2PQ67

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 v4.9

Splicing

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

Other links and lift over

hg19: chr10-38396144;