The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computed assertion could be determined for this classification!


Variant: NM_012250.6(RRAS2):c.409-16A>T

CA5894276

1270813 (ClinVar)

Gene: RRAS2
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: f9ad6210-9e61-440e-96c9-1ae524a3ddac
Approved on: 2024-09-17
Published on: 2024-10-01

HGVS expressions

NM_012250.6:c.409-16A>T
NM_012250.6(RRAS2):c.409-16A>T
NC_000011.10:g.14281736T>A
CM000673.2:g.14281736T>A
NC_000011.9:g.14303282T>A
CM000673.1:g.14303282T>A
NC_000011.8:g.14259858T>A
NG_017058.1:g.87771A>T
ENST00000256196.9:c.409-16A>T
ENST00000256196.8:c.409-16A>T
ENST00000414023.6:c.178-16A>T
ENST00000526063.5:c.178-16A>T
ENST00000529237.5:c.178-16A>T
ENST00000531421.5:c.178-16A>T
ENST00000531807.5:c.352-16A>T
ENST00000532814.5:c.178-16A>T
ENST00000532950.5:c.*349-16A>T
ENST00000534746.5:c.178-16A>T
ENST00000537760.5:c.304-16A>T
ENST00000545643.5:c.406-16A>T
NM_001102669.2:c.178-16A>T
NM_001177314.1:c.304-16A>T
NM_001177315.1:c.178-16A>T
NM_012250.5:c.409-16A>T
NM_001177314.2:c.304-16A>T
More

Benign

Met criteria codes 3
BA1 BP7 BP4
Not Met criteria codes 2
PM2 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RRAS2 Version 1.1.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The c.409-16A>T variant in RRAS2 is an intronic variant which is located in intron 4. It is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by UCSC Genome Browser (BP4, BP7). The highest population filtering allele frequency in gnomAD v2.1.1 is 0.6134 (97382/231122 alleles) in the Latino/Admixed American population, which is higher than the ClinGen RASopathy VCEP threshold (>0.0005) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal dominant RASopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy VCEP: BA1, BP4, BP7. (RASopathy VCEP specifications version 1.1; 9/17/2024)
Met criteria codes
BA1
The highest population filtering allele frequency in gnomAD v2.1.1 is 0.6134 (97382/231122 alleles) in the Latino/Admixed American population, which is higher than the ClinGen RASopathy VCEP threshold (>0.0005) for BA1, and therefore meets this criterion (BA1).
BP7
It is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by UCSC Genome Browser (BP4, BP7).
BP4
It is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by UCSC Genome Browser (BP4, BP7).
Not Met criteria codes
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.