ENST00000479903.5:c.666-11326A>T

Variant names:

• chr3-123942429-A-.
• NM_001366335.1:c.1343+2420T>.

Variant summary

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

The ENST00000479903.5(CCDC14):​c.230+2420T>. 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: CCDC14 ENST00000479903.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

CCDC14 (HGNC:25766): (coiled-coil domain containing 14) Involved in protein localization to centrosome. Located in centriolar satellite. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000479903.5. 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
	CCDC14	NM_001366335.1	MANE Select	c.1343+2420T>.		intron	N/A	NP_001353264.1	J3QT39
	CCDC14	NM_022757.5		c.1220+2420T>.		intron	N/A	NP_073594.5
	CCDC14	NM_001366339.1		c.1004+2420T>.		intron	N/A	NP_001353268.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CCDC14	ENST00000409697.8	TSL:2 MANE Select	c.1343+2420T>.		intron	N/A	ENSP00000386866.4	J3QT39
	CCDC14	ENST00000488653.6	TSL:1	c.1364+2420T>.		intron	N/A	ENSP00000420180.3	Q49A88-6
	CCDC14	ENST00000310351.8	TSL:1	c.1220+2420T>.		intron	N/A	ENSP00000312031.5	A0A0A0MR27

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: chr3-123661276;