ENST00000528412.5:n.-83T>G

Variant names:

• chr19-55166704-C-.
• ENST00000455045.5:c.-435G>.

Variant summary

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

The ENST00000528412.5(DNAAF3):​n.-197G>. 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: DNAAF3 ENST00000528412.5 upstream_gene
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

DNAAF3 (HGNC:30492): (dynein axonemal assembly factor 3) The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

DNAAF3-AS1 (HGNC:55292): (DNAAF3 antisense RNA 1)

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000528412.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DNAAF3	NM_001256714.1		c.-56G>.		5_prime_UTR	Exon 1 of 12	NP_001243643.1
	DNAAF3	NM_178837.4		c.-56G>.		5_prime_UTR	Exon 1 of 12	NP_849159.2
	DNAAF3	NM_001256715.2	MANE Select	c.-186G>.		upstream_gene	N/A	NP_001243644.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DNAAF3	ENST00000455045.5	TSL:1	c.-435G>.		5_prime_UTR	Exon 1 of 12	ENSP00000394343.1
	DNAAF3	ENST00000528476.1	TSL:4	n.19G>.		non_coding_transcript_exon	Exon 1 of 3
	DNAAF3-AS1	ENST00000591665.1	TSL:2	n.1186+3903C>.		intron	N/A

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: chr19-55678072;