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

Variant names:

Variant summary

Our verdict is Uncertain significance. Variant got 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

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

No conservation score assigned

Variant links:

Genes affected

NKAPD1 (HGNC:25569): (NKAP domain containing 1) Enables identical protein binding activity. [provided by Alliance of Genome Resources, Apr 2022]

NKAPD1 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NKAPD1	NM_018195.4 link	c.763A>.	p.Arg255???	missense_variant	Exon 6 of 6	ENST00000393047.8	NP_060665.3	A0A024R3H5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NKAPD1	ENST00000393047.8 link	c.763A>.	p.Arg255???	missense_variant	Exon 6 of 6	1	NM_018195.4	ENSP00000376767.3		Q6ZUT1-2

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

Name

Calibrated prediction

Score

Prediction

Splicing