Evidence Repository
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 label mismatch: NRAS vs undefined
  • 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_002524.5(NRAS):c.291-8G>A

CA134568

44575 (ClinVar)

Gene: NRAS
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 21b66061-4101-4c1b-8f10-414b205bed72
Approved on: 2024-12-03
Published on: 2025-03-26

HGVS expressions

NM_002524.5:c.291-8G>A
NM_002524.5(NRAS):c.291-8G>A
NC_000001.11:g.114709736C>T
CM000663.2:g.114709736C>T
NC_000001.10:g.115252357C>T
CM000663.1:g.115252357C>T
NC_000001.9:g.115053880C>T
NG_007572.1:g.12159G>A
ENST00000369535.5:c.291-8G>A
ENST00000369535.4:c.291-8G>A
NM_002524.4:c.291-8G>A
More

Likely Benign

Met criteria codes 2
BP7 BP4
Not Met criteria codes 3
BA1 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 NRAS Version 2.3.0

Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The NM_002524.5:c.291-8G>A variant is an intronic variant that 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 minor allele frequency in gnomAD v2.1.1 is 0.00008518 (11/129138 alleles) in the European (non-Finnish) population (PM2_Supporting, BS1, and BA1 are not met). In summary, this variant meets the criteria to be classified as likely benign for autosomal dominant RASopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen RASopathy VCEP: BP4, BP7. (ClinGen RASopathy VCEP specifications version 2.3; 12/3/2024)
Met criteria codes
BP7
The NM_002524.5:c.291-8G>A variant is an intronic variant that 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
The NM_002524.5:c.291-8G>A variant is an intronic variant that 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
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS1
The highest population minor allele frequency in gnomAD v2.1.1 is 0.00008518 (11/129138 alleles) in the European (non-Finnish) population (PM2_Supporting, BS1, and BA1 are not met).
Curation History
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