rs200767443
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_002764.4(PRPS1):c.864+10A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000761 in 1,208,553 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 26 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_002764.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000536 AC: 6AN: 112030Hom.: 0 Cov.: 23 AF XY: 0.0000292 AC XY: 1AN XY: 34194
GnomAD3 exomes AF: 0.0000164 AC: 3AN: 183304Hom.: 0 AF XY: 0.0000295 AC XY: 2AN XY: 67766
GnomAD4 exome AF: 0.0000784 AC: 86AN: 1096523Hom.: 0 Cov.: 30 AF XY: 0.0000691 AC XY: 25AN XY: 361921
GnomAD4 genome AF: 0.0000536 AC: 6AN: 112030Hom.: 0 Cov.: 23 AF XY: 0.0000292 AC XY: 1AN XY: 34194
ClinVar
Submissions by phenotype
not specified Benign:1
c.864+10A>G in intron 6 of PRPS1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 2/47417 European chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200767443). -
Charcot-Marie-Tooth Neuropathy X Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at