chr19-49640062-G-T
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_006270.5(RRAS):c.37C>A(p.Arg13Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,456,078 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. R13R) has been classified as Likely benign.
Frequency
Consequence
NM_006270.5 synonymous
Scores
Clinical Significance
Conservation
Publications
- Noonan syndrome and Noonan-related syndromeInheritance: AD Classification: STRONG Submitted by: G2P
- Noonan syndromeInheritance: AD Classification: MODERATE, LIMITED Submitted by: ClinGen, Genomics England PanelApp
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RRAS | NM_006270.5 | c.37C>A | p.Arg13Arg | synonymous_variant | Exon 1 of 6 | ENST00000246792.4 | NP_006261.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151972Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 7.67e-7 AC: 1AN: 1304106Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 642468 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151972Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74224 show subpopulations
ClinVar
Submissions by phenotype
Noonan syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at