About KRAS
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
KRAS c.179G>T, p.(Gly60Val)
Classification
Likely pathogenic
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is likely pathogenic. Select a step to read what it means.
Likely pathogenic.A likely pathogenic classification under the recorded framework.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
LYFE Sciences is an AI system, and it can make mistakes.
Criteria may be applied incorrectly, sources may be misread, and a
confident-looking classification can still be wrong.
Double-check every criterion and its underlying evidence
before relying on any call.
01The reasoning
How it was classified
The recorded framework is ClinGen KRAS VCEP v2.3.0. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
Recorded applied criteria
The applied criteria and their strengths are shown as assessed under the stated framework.
Pathogenic evidence criteria: 5
Benign evidence criteria: 0
Pathogenic criteria applied · 5
PS2Moderate
PS2 · moderate
One de novo observation confirmed by parental genotyping in an infant with Noonan syndrome and lethal hypertrophic cardiomyopathy (Nosan et al. 2013). Per RASopathy VCEP PS2 rules, 1 de novo point confers Moderate strength.
PS4Supporting
PS4 · supporting
One well-documented RASopathy proband identified — an infant with Noonan syndrome, dysmorphic features, and lethal HCM harboring a de novo G60V variant (Nosan et al. 2013). Per VCEP PS4 point-based rules, ≥1 point confers Supporting strength. The variant is also reported in ClinVar as Pathogenic/Likely Pathogenic by 7 clinical laboratories.
PM1Moderate
PM1 · moderate
p.Gly60 is located within the Switch II (SW2) domain (amino acids 57–64), a critical and well-established functional domain per RASopathy VCEP specifications. SW2 is one of four domains (P-loop, SW1, SW2, SAK) approved for PM1 application at Moderate strength.
PM5Moderate
PM5 · moderate
At least two different pathogenic missense changes have been reported at codon 60 — p.Gly60Ser and p.Gly60Arg — in individuals with Noonan syndrome and cardio-facio-cutaneous syndrome (cited in Nosan et al. 2013, referencing Kratz et al. 2009 and Niihori et al. 2006). Per VCEP PM5 rules, ≥1 pathogenic residue change at the same codon confers Moderate strength.
PP3Supporting
PP3 · supporting
REVEL score of 0.879 exceeds the VCEP threshold of ≥0.7 for PP3 at Supporting strength. SpliceAI max delta score is 0.25, indicating minimal predicted splicing impact, which does not alter the REVEL-based assessment.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Likely pathogenic
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for KRAS Version 2.3.0 v2.3.0 criteria-combination framework: matched Rule13 (Pathogenic.Moderate >=3) with applied criteria: PS2 moderate, PS4 supporting, PM1 moderate, PM5 moderate, PP3 supporting; maps to Likely Pathogenic.
02The sources
Evidence at a glance
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1
gnomAD v2.1
Population frequency
3 / 1,614,068 alleles
gnomAD v4.1: 3 / 1,614,068 alleles. Recorded AF 1.85866e-06. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.97886e-06; MAF= 0.00040%, 1/251328 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.79879e-06; MAF= 0.00088%, 1/113652 alleles, homozygotes = 0).
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
No listed criterion applied
SpliceAI score
0.250 maximum delta
Recorded SpliceAI maximum delta score: 0.250. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
7 reported laboratory submissions
4 Pathogenic · 3 Likely pathogenic.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Gain-of-function; curated oncogenicity label: Likely Oncogenic.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
5 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV55708344, n = 5 times).
Cancer Hotspots
This variant lies in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen KRAS VCEP v2.3.0, with the data and sources behind each one.
29 criteria with recorded statuses: 5 met · 10 not met · 2 not assessed · 12 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_033360.3:c.179G>T (p.Gly60Val) is a missense variant in KRAS identified in a single de novo proband with Noonan syndrome and lethal hypertrophic cardiomyopathy (Nosan et al. 2013).
The variant affects Gly60, which resides in the Switch II domain (AA 57–64), a critical functional domain per RASopathy VCEP specifications (PM1_Moderate).
At least two different pathogenic missense changes (p.Gly60Ser, p.Gly60Arg) have been reported at the same codon in RASopathy patients, satisfying PM5 at Moderate strength.
Parental genotyping confirmed the variant occurred de novo, meeting PS2 at Moderate strength (1 de novo point per VCEP rules).
The variant is observed in a single RASopathy proband, meeting PS4 at Supporting strength (≥1 point per VCEP rules).
REVEL in silico score of 0.879 exceeds the VCEP threshold of ≥0.7, meeting PP3 at Supporting strength.
The variant is present at extremely low frequency in gnomAD (v2.1: 1/251,328; v4.1: 3/1,614,068), which is below benign population thresholds but above the PM2 absence requirement.
Applying the RASopathy VCEP classification rules: three Moderate criteria (PS2_Moderate, PM1, PM5) plus two Supporting criteria (PS4_Supporting, PP3) are met. Per VCEP Rule13, ≥3 Moderate criteria yields a classification of Likely Pathogenic.
No criteria match.
Met · 5
PS2 ModerateOne de novo observation confirmed by parental genotyping in an infant with Noonan syndrome and lethal hypertrophic cardiomyopathy (Nosan et al. 2013). Per RASopathy VCEP PS2 rules, 1 de novo point confers Moderate strength. Details ▾Hide ▴
Evidence considered
- De novo heterozygous c.179G>T (p.Gly60Val) confirmed by parental DNA testing in a Noonan syndrome proband with rapidly progressive HCM leading to death at 4 months
Still missing
- Single de novo observation
- additional independent de novo reports would upgrade strength
Sources
PS4 SupportingOne well-documented RASopathy proband identified — an infant with Noonan syndrome, dysmorphic features, and lethal HCM harboring a de novo G60V variant (Nosan et al. 2013). Per VCEP PS4 point-based rules, ≥1 point confers Supporting strength. The variant is also reported in ClinVar as Pathogenic/Likely Pathogenic by 7 clinical laboratories. Details ▾Hide ▴
Evidence considered
- 1 RASopathy proband with de novo G60V and classic NS phenotype
- ClinVar classification Pathogenic (4 labs)
- Likely Pathogenic (3 labs)
Still missing
- Additional probands needed to reach Moderate (≥3 points) or Strong (≥5 points) strength
Sources
PM1 Moderatep.Gly60 is located within the Switch II (SW2) domain (amino acids 57–64), a critical and well-established functional domain per RASopathy VCEP specifications. SW2 is one of four domains (P-loop, SW1, SW2, SAK) approved for PM1 application at Moderate strength. Details ▾Hide ▴
Evidence considered
- Gly60 falls within SW2 domain (AA 57-64)
- a VCEP-defined critical functional domain for RASopathies
Sources
PM5 ModerateAt least two different pathogenic missense changes have been reported at codon 60 — p.Gly60Ser and p.Gly60Arg — in individuals with Noonan syndrome and cardio-facio-cutaneous syndrome (cited in Nosan et al. 2013, referencing Kratz et al. 2009 and Niihori et al. 2006). Per VCEP PM5 rules, ≥1 pathogenic residue change at the same codon confers Moderate strength. Details ▾Hide ▴
Evidence considered
- p.Gly60Ser and p.Gly60Arg reported as pathogenic KRAS missense variants in RASopathy patients
- same codon as p.Gly60Val
Still missing
- Proband counts for G60S/G60R not independently verified
- ≥5 probands across ≥2 residue changes would upgrade to Strong
Sources
PP3 SupportingREVEL score of 0.879 exceeds the VCEP threshold of ≥0.7 for PP3 at Supporting strength. SpliceAI max delta score is 0.25, indicating minimal predicted splicing impact, which does not alter the REVEL-based assessment. Details ▾Hide ▴
Not met · 10 · evaluated, threshold not reached
PS1 PS1 requires the same amino acid change as a previously established pathogenic variant. G60V has not been previously established as a germline pathogenic variant in KRAS or analogous RAS genes. G60S and G60R are established pathogenic changes at the same residue but constitute different amino acid substitutions. Details ▾Hide ▴
Evidence considered
- G60S and G60R are known pathogenic variants at codon 60
- but G60V is a distinct amino acid change not previously established as pathogenic
Sources
PM2 The RASopathy VCEP PM2 rule requires the variant to be absent from gnomAD controls. G60V is present in gnomAD v2.1 (1/251,328 alleles; AF=3.98×10⁻⁶) and gnomAD v4.1 (3/1,614,068 alleles; AF=1.86×10⁻⁶), therefore PM2 criteria are not satisfied. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 1/251
- 328 alleles (AF=3.98e-6)
- gnomAD v4.1: 3/1
- 614
- 068 alleles (AF=1.86e-6)
- absent from gnomAD-Canada
Sources
PP1 No segregation data are available. The only reported case is de novo (Nosan et al. 2013), precluding co-segregation analysis. Per VCEP, ≥3 informative meioses are required for Supporting strength. Details ▾Hide ▴
Evidence considered
- De novo occurrence precludes segregation analysis
- no family-based segregation data identified
Still missing
- Multi-generational family data not available
BA1 GnomAD filtering allele frequency (v2.1: 3.98×10⁻⁶; v4.1: 1.86×10⁻⁶) is far below the VCEP BA1 threshold of ≥0.05%. The variant is extremely rare in population databases. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 AF=3.98e-6
- v4.1 AF=1.86e-6
- both well below BA1 threshold of 0.05%
Sources
BS1 GnomAD filtering allele frequency (v2.1: 3.98×10⁻⁶; v4.1: 1.86×10⁻⁶) is far below the VCEP BS1 threshold of ≥0.025%. The variant is too rare in population databases to support a benign interpretation. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 AF=3.98e-6
- v4.1 AF=1.86e-6
- both well below BS1 threshold of 0.025%
Sources
BS2 No evidence of the variant observed in a healthy adult individual in a recessive or X-linked disorder, nor observed in trans with a pathogenic variant for a fully penetrant dominant disorder. The VCEP BS2 point-based scoring requires evidence of such observations. Details ▾Hide ▴
Evidence considered
- No evidence for BS2 criteria identified
BS4 No evidence of non-segregation with disease in affected family members. The only reported case is de novo, which does not provide segregation information for BS4 application. Per VCEP, one informative meiosis demonstrating lack of segregation would confer Strong benign evidence. Details ▾Hide ▴
Evidence considered
- No non-segregation data available
BP2 No evidence of the variant observed in trans with a pathogenic variant for a fully penetrant dominant disorder, or in cis with a pathogenic variant. The VCEP BP2 point-based scoring requires such observations. Details ▾Hide ▴
Evidence considered
- No evidence for BP2 criteria identified
BP4 REVEL score of 0.879 exceeds the VCEP BP4 threshold of ≤0.3. Multiple in silico predictions support a deleterious effect rather than a benign one. BayesDel score of 0.303 is near the borderline but does not independently support BP4. Details ▾Hide ▴
Evidence considered
- REVEL 0.879 (>0.3 threshold for BP4)
- BayesDel 0.303
Sources
revelbayesdel
BP5 No evidence of an alternative molecular cause for the observed RASopathy phenotype. The VCEP BP5 point-based scoring requires a documented alternative molecular diagnosis. Details ▾Hide ▴
Evidence considered
- No alternative molecular cause identified
Not assessed · 2 · no assessment recorded
PS3 No variant-specific functional assay data for KRAS G60V were identified in the available literature. The RASopathy VCEP-approved functional assays (RAS activation, MEK/ERK activation) list PMIDs 20949621 and 23059812 for KRAS, but full texts were not available to confirm G60V was tested. Details ▾Hide ▴
Evidence considered
- No variant-specific functional data found in reviewed full texts or abstracts
Still missing
- Full texts of Gremer 2011 (PMID:20949621) and Cirstea 2013 (PMID:23059812) should be reviewed for G60V functional data
PM6 The single de novo event reported in Nosan et al. 2013 was applied under PS2. Applying the same event under PM6 would constitute double-counting. No additional independent de novo observations were identified. Details ▾Hide ▴
Evidence considered
- No additional de novo events beyond the one used for PS2
Still missing
- Additional independent de novo observations could be applied under PM6
Not applicable · 12· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 VCEPCSPEC RASopathy VCEP v2.3.0 designates PVS1 as Not Applicable. KRAS RASopathies have a gain-of-function disease mechanism; this is a missense variant (p.Gly60Val) and does not fall into null-variant buckets. Details ▾Hide ▴
Evidence considered
- CSPEC VCEP ruleset marks PVS1 as Not Applicable for KRAS RASopathies
Sources
PM3 VCEPCSPEC RASopathy VCEP v2.3.0 designates PM3 as Not Applicable. RASopathies are autosomal dominant disorders; PM3 (in trans with pathogenic variant) is not applicable. Details ▾Hide ▴
Sources
PM4 N/ASkipped per adjudication instructions. This is a substitution variant, not a protein-length-altering change. Details ▾Hide ▴
No further detail was recorded.
PP2 VCEPCSPEC RASopathy VCEP v2.3.0 designates PP2 as Not Applicable. Details ▾Hide ▴
PP4 VCEPCSPEC RASopathy VCEP v2.3.0 designates PP4 as Not Applicable. Details ▾Hide ▴
PP5 VCEPCSPEC RASopathy VCEP v2.3.0 designates PP5 as Not Applicable. Details ▾Hide ▴
BS3 VCEPCSPEC RASopathy VCEP v2.3.0 designates BS3 as Not Applicable. Details ▾Hide ▴
BP1 N/AThe RASopathy VCEP explicitly states BP1 has contraindications for use with RASopathies. BP1 is restricted to truncating variants in genes with established loss-of-function disease correlation. KRAS RASopathies have a gain-of-function mechanism, and this variant is missense, not truncating. Details ▾Hide ▴
Evidence considered
- VCEP: BP1 contraindicated for RASopathies
- variant is missense
- not truncating
- GOF disease mechanism
Sources
BP3 VCEPCSPEC RASopathy VCEP v2.3.0 designates BP3 as Not Applicable — no known benign repetitive areas in RASopathy genes. Variant is a substitution, not an in-frame indel. Details ▾Hide ▴
Sources
BP6 VCEPCSPEC RASopathy VCEP v2.3.0 designates BP6 as Not Applicable. Details ▾Hide ▴
BP7 N/Ac.179G>T is a missense variant (p.Gly60Val), not a synonymous variant. BP7 applies exclusively to synonymous variants with no predicted splice impact. Details ▾Hide ▴
Evidence considered
- Variant is missense
- not synonymous
- BP7 not applicable
PS5 N/APS5 is not a standard ACMG/AMP 2015 criterion and is not defined in the RASopathy VCEP v2.3.0 specifications. Details ▾Hide ▴
No further detail was recorded.
Identifiers
- Gene
- KRAS
- Transcript
- NM_033360.3
- Coding (HGVS c.)
- NM_033360.3:c.179G>T
- Protein (HGVS p.)
- NP_203524.1:p.(Gly60Val)
- GRCh38
- chr12:25227345 C>A
- GRCh37
- chr12:25380279 C>A
- ClinVar
- 163766
- COSMIC
- COSV55708344
Gene diagram
Every interpreted variant in KRAS, mapped onto the exon structure of NM_033360.3. Select a row to find it on the plot.
KRASNM_033360.3
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in KRAS
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
3 / 1,614,068 alleles
AF 1.86e-06 · 0 homozygotes · FAF 6.8e-07
gnomAD v2.1
1 / 251,328 alleles
AF 3.98e-06 · 0 homozygotes
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 1.9e-06 · 3 / 1,614,068 alleles · 0 hom · FAF 6.8e-07
| European (non-Finnish)3 / 1,179,982 | 2.5e-06 |
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.
gnomAD v2.1
AF 4e-06 · 1 / 251,328 alleles · 0 hom
| European (non-Finnish)1 / 113,652 | 8.8e-06 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 1.85866e-06; MAF= 0.00019%, 3/1614068 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 2.54241e-06; MAF= 0.00025%, 3/1179982 alleles, homozygotes = 0); grpmax FAF= 6.8e-07.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.97886e-06; MAF= 0.00040%, 1/251328 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.79879e-06; MAF= 0.00088%, 1/113652 alleles, homozygotes = 0).
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.879
- BayesDel
- 0.303
How the predictions were used
PP3 SupportingREVEL score of 0.879 exceeds the VCEP threshold of ≥0.7 for PP3 at Supporting strength. SpliceAI max delta score is 0.25, indicating minimal predicted splicing impact, which does not alter the REVEL-based assessment. Details ▾Hide ▴
BP4 REVEL score of 0.879 exceeds the VCEP BP4 threshold of ≤0.3. Multiple in silico predictions support a deleterious effect rather than a benign one. BayesDel score of 0.303 is near the borderline but does not independently support BP4. Details ▾Hide ▴
Evidence considered
- REVEL 0.879 (>0.3 threshold for BP4)
- BayesDel 0.303
Sources
revelbayesdel
BP7 N/Ac.179G>T is a missense variant (p.Gly60Val), not a synonymous variant. BP7 applies exclusively to synonymous variants with no predicted splice impact. Details ▾Hide ▴
Evidence considered
- Variant is missense
- not synonymous
- BP7 not applicable
Statement
In silico
SpliceAI predicts possible splice impact for this variant (max delta score = 0.25). REVEL score = 0.879. BayesDel score = 0.303486.
8 paper records listed. 1 cited in the classification.
Cited in the classification
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PMID 24382853 ↗A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.Nosan G et al. · 2013 DecA heterozygous missense variant c.179G>T (p.Gly60Val) in KRAS exon 3 was identified as a de novo germline mutation in a preterm infant with Noonan syndrome, dysmorphic features, and rapidly progressive hypertrophic cardiomyopathy leading to death at 4 months of age. The authors note that other mutations at the same residue (p.Gly60Ser, p.Gly60Arg) are known pathogenic NS variants.→ PS2 → PS4 → PM5 Names this variant
Source detail
This heterozygous unclassified missense variant in exon 3: c.179G>T (p.Gly60Val) might be associated with a lethal form of Noonan syndrome.
Location Abstract; Case Report, paragraph 2; Discussion, paragraphs 1-2; Figure 2
Context Clinical case report; Sanger sequencing of KRAS coding exons; parental DNA genotyping confirmed de novo status
Other recorded publications
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PMID 24446311 ↗BRAF kinase domain mutations are present in a subset of chronic myelomonocytic leukemia with wild-type RAS.KRAS c.179G>T (p.G60V) was identified as a somatic mutation in 1 of 70 chronic myelomonocytic leukemia (CMML) patients undergoing targeted next-generation sequencing of RAS pathway genes. The variant was detected alongside other KRAS mutations (G12S, G12R, G12D, G12A, G13D, Q61H, A59del, K117N) in the RAS-mutant subgroup.Names this variant
Quoted passage
7 KRAS NM_033360.2 (KRAS):c.179G>T p.G60V 3 G->T Glycine>Valine
Results, Table 2 (sample ID 7)
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PMID 27288520 ↗Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia.No paper-specific finding is recorded.
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PMID 34117033 ↗Clinical and Functional Characterization of Atypical KRAS/NRAS Mutations in Metastatic Colorectal Cancer.Clinical and functional characterization of atypical KRAS/NRAS mutations in metastatic colorectal cancer using an in vitro functional annotation platform. NM_033360.3:c.179G>T (p.Gly60Val) was not identified in this paper.Does not name this variant
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PMID 19396835 ↗Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.Kratz CP et al. · 2009No paper-specific finding is recorded.
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PMID 30813707 ↗Provisional Guideline Recommendation for EGFR Gene Mutation Testing in Liquid Samples of Lung Cancer Patients: A Proposal by the Korean Cardiopulmonary Pathology Study Group.Provisional guideline for EGFR mutation testing in liquid biopsy samples from lung cancer patients. This paper concerns EGFR, not KRAS. NM_033360.3:c.179G>T (p.Gly60Val) was not identified.Does not name this variant
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PMID 34958143 ↗Trio exome sequencing is highly relevant in prenatal diagnostics.Gabriel H et al. · 2022Evaluation of trio exome sequencing for prenatal diagnostics in 500 pregnancies with fetal ultrasound abnormalities. NM_033360.3:c.179G>T (p.Gly60Val) was not identified among the reported diagnostic findings.Does not name this variant
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PMID 16474404 ↗Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.Niihori T et al. · 2006No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
3 / 1,614,068 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.250
Open source ↗
ClinVar
4 Pathogenic · 3 Likely pathogenic
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
Cancer hotspots
Captured Cancer Hotspots source record
Open source ↗
OncoKB
Captured OncoKB source record
Open source ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/643243114
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/163766/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/12-25380279-C-A?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr12-25227345-C-A?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/12-25227345-C-A
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_033360.3%3Ac.179G…
- OncoKB ↗www.oncokb.org/gene/KRAS/G60V
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=121059733
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 1.85866e-06; MAF= 0.00019%, 3/1614068 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 2.54241e-06; MAF= 0.00025%, 3/1179982 alleles, homozygotes = 0); grpmax FAF= 6.8e-07.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.97886e-06; MAF= 0.00040%, 1/251328 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.79879e-06; MAF= 0.00088%, 1/113652 alleles, homozygotes = 0).
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
ClinVar
This variant has been reported in ClinVar as Pathogenic (4 clinical laboratories) and as Likely pathogenic (3 clinical laboratories). (ClinVarID = 163766)
In silico
SpliceAI predicts possible splice impact for this variant (max delta score = 0.25). REVEL score = 0.879. BayesDel score = 0.303486.
Functional
OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Gain-of-function; curated oncogenicity label: Likely Oncogenic.
Somatic
This variant lies in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV55708344, n = 5 times).
Cancer Hotspots
This variant lies in a statistically significant hotspot.