rs748318755
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000384.3(APOB):c.9633C>A(p.Asn3211Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000688 in 1,613,024 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000384.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151994Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250372Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135346
GnomAD4 exome AF: 0.0000739 AC: 108AN: 1461030Hom.: 0 Cov.: 37 AF XY: 0.0000743 AC XY: 54AN XY: 726748
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151994Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74240
ClinVar
Submissions by phenotype
Hypercholesterolemia, autosomal dominant, type B;C4551990:Familial hypobetalipoproteinemia 1 Uncertain:1Benign:1
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Hypercholesterolemia, familial, 1 Uncertain:1
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Cardiovascular phenotype Uncertain:1
The c.9633C>A (p.N3211K) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a C to A substitution at nucleotide position 9633, causing the asparagine (N) at amino acid position 3211 to be replaced by a lysine (K). 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