2-182930792-A-AT
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_013436.5(NCKAP1):c.2860-5_2860-4insA variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,609,516 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_013436.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NCKAP1 | NM_013436.5 | c.2860-5_2860-4insA | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000361354.9 | |||
NCKAP1 | NM_205842.3 | c.2878-5_2878-4insA | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
NCKAP1 | XM_006712200.4 | c.2872-5_2872-4insA | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
NCKAP1 | XM_006712201.4 | c.2854-5_2854-4insA | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NCKAP1 | ENST00000361354.9 | c.2860-5_2860-4insA | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_013436.5 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000664 AC: 101AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000188 AC: 47AN: 249710Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135062
GnomAD4 exome AF: 0.0000693 AC: 101AN: 1457306Hom.: 0 Cov.: 29 AF XY: 0.0000552 AC XY: 40AN XY: 725280
GnomAD4 genome AF: 0.000670 AC: 102AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000699 AC XY: 52AN XY: 74418
ClinVar
Submissions by phenotype
NCKAP1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Sep 10, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at