ENST00000532699.1:n.315-6154C>A

Variant names:

• chr11-112082853-A-.
• NM_018195.4:c.763A>.

Variant summary

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

The NM_018195.4(NKAPD1):​c.763A>.​(p.Arg255???) variant causes a missense 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: NKAPD1 NM_018195.4 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: No publications found

Genes affected

NKAPD1 (HGNC:25569): (NKAP domain containing 1) Enables identical protein binding activity. [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: NM_018195.4. 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
	NKAPD1	NM_018195.4	MANE Select	c.763A>.	p.Arg255???	missense	Exon 6 of 6	NP_060665.3
	NKAPD1	NM_001082969.2		c.763A>.	p.Arg255???	missense	Exon 6 of 6	NP_001076438.1
	NKAPD1	NM_001082970.2		c.760A>.	p.Arg254???	missense	Exon 6 of 6	NP_001076439.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	NKAPD1	ENST00000393047.8	TSL:1 MANE Select	c.763A>.	p.Arg255???	missense	Exon 6 of 6	ENSP00000376767.3
	NKAPD1	ENST00000420986.6	TSL:1	c.760A>.	p.Arg254???	missense	Exon 6 of 6	ENSP00000402208.2
	NKAPD1	ENST00000280352.13	TSL:2	c.760A>.	p.Arg254???	missense	Exon 6 of 6	ENSP00000339076.7

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: chr11-111953577;