17-60525852-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006380.5(APPBP2):c.80G>A(p.Arg27His) variant causes a missense change. The variant allele was found at a frequency of 0.000103 in 1,613,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006380.5 missense
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APPBP2 | NM_006380.5 | c.80G>A | p.Arg27His | missense_variant | Exon 1 of 13 | ENST00000083182.8 | NP_006371.2 | |
APPBP2 | NM_001282476.2 | c.-45G>A | 5_prime_UTR_variant | Exon 1 of 12 | NP_001269405.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000790 AC: 12AN: 151976Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000717 AC: 18AN: 251206Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135796
GnomAD4 exome AF: 0.000106 AC: 155AN: 1461826Hom.: 0 Cov.: 31 AF XY: 0.0000963 AC XY: 70AN XY: 727216
GnomAD4 genome AF: 0.0000790 AC: 12AN: 151976Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74200
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80G>A (p.R27H) alteration is located in exon 1 (coding exon 1) of the APPBP2 gene. This alteration results from a G to A substitution at nucleotide position 80, causing the arginine (R) at amino acid position 27 to be replaced by a histidine (H). 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