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]
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  • See Evidence submitted by expert panel for details.

Variant: NM_004985.4(KRAS):c.531_533delGAA (p.Lys180del)

CA135584

45129 (ClinVar)

Gene: KRAS
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 54ddcd15-893f-4be1-9525-18126097d55a
Approved on: 2017-04-03
Published on: 2018-12-10

HGVS expressions

NM_004985.4:c.531_533delGAA
NM_004985.4(KRAS):c.531_533delGAA (p.Lys180del)
NM_004985.4:c.531_533del
NM_033360.3:c.*85_*87del
ENST00000256078.8:c.*85_*87del
ENST00000311936.7:c.531_533del
ENST00000557334.5:c.192_194del
NC_000012.12:g.25209834_25209836del
CM000674.2:g.25209834_25209836del
NC_000012.11:g.25362768_25362770del
CM000674.1:g.25362768_25362770del
NC_000012.10:g.25254035_25254037del
NG_007524.1:g.46090_46092del

Benign

Met criteria codes 2
BP5 BA1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
RASopathy VCEP
The filtering allele frequency of the c.531_533delGAA (p.Lys180del) variant in the KRAS gene is 0.51% for European (non-Finnish) chromosomes by the Exome Aggregation Consortium (55/64754 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx, Partners LMM internal data; GTR ID's: 21766, 26957; ClinVar SCV000061947, SCV000207865). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BA1, BP5.
Met criteria codes
BP5
This variant has been identified in a patient with an alternate molecular basis for disease (BP5; GeneDx, Partners LMM internal data; GTR ID's: 21766, 26957; ClinVar SCV000061947, SCV000207865).
BA1
The filtering allele frequency of the c.531_533delGAA (p.Lys180del) variant in the KRAS gene is 0.51% for European (non-Finnish) chromosomes by the Exome Aggregation Consortium (55/64754 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1).
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