ENST00000494118.5:n.106+72821T>G

Variant names:

• chr3-22299706-C-.
• ENST00000494118.5:n.106+72744G>.

Variant summary

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

The ENST00000494118.5(ZNF385D):​n.106+72744G>. 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: ZNF385D ENST00000494118.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned

Genes affected

ZNF385D (HGNC:26191): (zinc finger protein 385D) Enables sequence-specific double-stranded DNA binding activity. Predicted to be active in nucleus. [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
ZNF385D	XM_017007191.2	c.106+72744G>.		intron_variant	Intron 1 of 9		XP_016862680.1
ZNF385D	XM_017007192.2	c.106+72744G>.		intron_variant	Intron 1 of 8		XP_016862681.1
ZNF385D	XM_011534122.3	c.106+72744G>.		intron_variant	Intron 1 of 6		XP_011532424.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ZNF385D	ENST00000494118.5	n.106+72744G>.		intron_variant	Intron 1 of 6	1		ENSP00000493727.1
ZNF385D	ENST00000706131.1	c.106+72744G>.		intron_variant	Intron 1 of 9			ENSP00000516216.1
ZNF385D	ENST00000494108.3	c.106+72744G>.		intron_variant	Intron 2 of 9	5		ENSP00000495609.3

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: chr3-22341197;