chr17-17794940-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_030665.4(RAI1):c.1992G>A(p.Pro664Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.587 in 1,613,474 control chromosomes in the GnomAD database, including 291,042 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_030665.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RAI1 | ENST00000353383.6 | c.1992G>A | p.Pro664Pro | synonymous_variant | Exon 3 of 6 | 1 | NM_030665.4 | ENSP00000323074.4 | ||
RAI1 | ENST00000395774.1 | c.1992G>A | p.Pro664Pro | synonymous_variant | Exon 2 of 2 | 2 | ENSP00000379120.1 |
Frequencies
GnomAD3 genomes AF: 0.565 AC: 85946AN: 152060Hom.: 25254 Cov.: 34
GnomAD3 exomes AF: 0.502 AC: 125894AN: 250822Hom.: 35084 AF XY: 0.498 AC XY: 67531AN XY: 135718
GnomAD4 exome AF: 0.590 AC: 861867AN: 1461296Hom.: 265761 Cov.: 108 AF XY: 0.580 AC XY: 421992AN XY: 726962
GnomAD4 genome AF: 0.565 AC: 86029AN: 152178Hom.: 25281 Cov.: 34 AF XY: 0.554 AC XY: 41192AN XY: 74392
ClinVar
Submissions by phenotype
not specified Benign:5
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. -
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not provided Benign:3
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Smith-Magenis syndrome Benign:2
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Inborn genetic diseases Benign:1
This alteration is classified as 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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at