ENST00000532699.1:n.315-5708C>A

Variant names:

• chr11-112083299-G-A
• NM_018195.4:c.*327G>A

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_018195.4(NKAPD1):​c.*327G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 32)
• Consequence: NKAPD1 NM_018195.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.843

Genes affected

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

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
NKAPD1	NM_018195.4	c.*327G>A		3_prime_UTR_variant	Exon 6 of 6	ENST00000393047.8	NP_060665.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
NKAPD1	ENST00000393047.8	c.*327G>A		3_prime_UTR_variant	Exon 6 of 6	1	NM_018195.4	ENSP00000376767.3
NKAPD1	ENST00000420986.6	c.*327G>A		3_prime_UTR_variant	Exon 6 of 6	1		ENSP00000402208.2
NKAPD1	ENST00000280352.13	c.*327G>A		3_prime_UTR_variant	Exon 6 of 6	2		ENSP00000339076.7
NKAPD1	ENST00000532163.5	c.*327G>A		3_prime_UTR_variant	Exon 6 of 6	2		ENSP00000432188.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	8.8
DANN	Benign	0.49

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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: chr11-111954023;