17-3818366-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001114118.3(NCBP3):c.1207G>A(p.Asp403Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000438 in 1,461,882 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001114118.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NCBP3 | NM_001114118.3 | c.1207G>A | p.Asp403Asn | missense_variant | Exon 10 of 13 | ENST00000389005.6 | NP_001107590.1 | |
NCBP3 | NM_001398494.1 | c.1207G>A | p.Asp403Asn | missense_variant | Exon 10 of 14 | NP_001385423.1 | ||
NCBP3 | XR_007065313.1 | n.1230G>A | non_coding_transcript_exon_variant | Exon 10 of 15 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251450Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135900
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461882Hom.: 0 Cov.: 32 AF XY: 0.0000413 AC XY: 30AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1207G>A (p.D403N) alteration is located in exon 10 (coding exon 10) of the NCBP3 gene. This alteration results from a G to A substitution at nucleotide position 1207, causing the aspartic acid (D) at amino acid position 403 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at