2-182935297-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_013436.5(NCKAP1):c.2774G>A(p.Arg925Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013436.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NCKAP1 | NM_013436.5 | c.2774G>A | p.Arg925Lys | missense_variant | Exon 25 of 31 | ENST00000361354.9 | NP_038464.1 | |
NCKAP1 | NM_205842.3 | c.2792G>A | p.Arg931Lys | missense_variant | Exon 26 of 32 | NP_995314.1 | ||
NCKAP1 | XM_006712200.4 | c.2786G>A | p.Arg929Lys | missense_variant | Exon 26 of 32 | XP_006712263.1 | ||
NCKAP1 | XM_006712201.4 | c.2768G>A | p.Arg923Lys | missense_variant | Exon 25 of 31 | XP_006712264.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.