16-28495658-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018690.4(APOBR):c.617C>T(p.Thr206Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000188 in 1,546,108 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018690.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151776Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000389 AC: 6AN: 154222Hom.: 0 AF XY: 0.0000493 AC XY: 4AN XY: 81092
GnomAD4 exome AF: 0.0000179 AC: 25AN: 1394212Hom.: 0 Cov.: 77 AF XY: 0.0000277 AC XY: 19AN XY: 686746
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151896Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74216
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.617C>T (p.T206M) alteration is located in exon 2 (coding exon 2) of the APOBR gene. This alteration results from a C to T substitution at nucleotide position 617, causing the threonine (T) at amino acid position 206 to be replaced by a methionine (M). 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