12-49295226-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006262.4(PRPH):c.26G>A(p.Arg9Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0118 in 1,611,522 control chromosomes in the GnomAD database, including 254 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006262.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0101 AC: 1533AN: 152190Hom.: 17 Cov.: 33
GnomAD3 exomes AF: 0.0146 AC: 3456AN: 236798Hom.: 57 AF XY: 0.0161 AC XY: 2094AN XY: 130034
GnomAD4 exome AF: 0.0120 AC: 17536AN: 1459214Hom.: 235 Cov.: 31 AF XY: 0.0130 AC XY: 9430AN XY: 725872
GnomAD4 genome AF: 0.0101 AC: 1541AN: 152308Hom.: 19 Cov.: 33 AF XY: 0.00999 AC XY: 744AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:4Other:1
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This variant is associated with the following publications: (PMID: 15322088, 25588603, 27884173, 28430856) -
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PRPH: BP4, BS1, BS2 -
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not specified Benign:1
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Amyotrophic lateral sclerosis type 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at