rs142981643
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_030665.4(RAI1):c.5036C>T(p.Ala1679Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00107 in 1,614,154 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 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_030665.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000637 AC: 97AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000585 AC: 147AN: 251424Hom.: 0 AF XY: 0.000567 AC XY: 77AN XY: 135894
GnomAD4 exome AF: 0.00112 AC: 1631AN: 1461862Hom.: 3 Cov.: 36 AF XY: 0.00110 AC XY: 799AN XY: 727232
GnomAD4 genome AF: 0.000630 AC: 96AN: 152292Hom.: 0 Cov.: 33 AF XY: 0.000698 AC XY: 52AN XY: 74474
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:6
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This variant is associated with the following publications: (PMID: 32032478) -
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RAI1: BS1 -
not specified Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
RAI1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at