About MSH6
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
MSH6 c.942C>G, p.(Ser314Arg)
Classification
Uncertain significance
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
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 MSH6 VCEP v2.0.0. 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: 0
Benign evidence criteria: 1
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 1
BS1Strong
BS1 · strong
This variant is present in gnomAD v4.1 with a grpmax filtering allele frequency of 0.00027673 (0.027673%), which is above the MSH6 BS1 threshold of 0.00022 (0.022%) and below the BA1 threshold of 0.0022 (0.22%); this supports BS1 at Strong strength.
Recorded classification: Uncertain significance
ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH6 Version 2.0.0 v2.0.0 criteria-combination framework was evaluated deterministically with applied criteria: BS1 strong; no rule matched the adjudicated criteria.
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
36 / 1,613,998 alleles
gnomAD v4.1: 36 / 1,613,998 alleles. Recorded AF 2.23049e-05. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 5.30632e-05; MAF= 0.00531%, 15/282682 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000561167; MAF= 0.05612%, 14/24948 alleles, homozygotes = 0); grpmax FAF= 0.00037952.
No screenshot for this evidence
Computational predictions
Not recorded
No SpliceAI or REVEL score is recorded in the fields used for this tile.
No listed criterion applied
ClinVar submissions
Not recorded
A ClinVar laboratory submission summary was not recorded.
Context only
ClinVar ↗
Functional evidence
Statement recorded
OncoKB has not reviewed this specific variant; no variant-level oncogenicity or biological effect is available. Gene-level context: MSH6, a DNA mismatch repair protein, is frequently mutated in colorectal, small bowel, and endometrial cancers.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
Not assessed
No COSMIC evidence statement is recorded in this case.
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen MSH6 VCEP v2.0.0, with the data and sources behind each one.
28 criteria with recorded statuses: 1 met · 3 not met · 13 not assessed · 11 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
The MSH6 c.942C>G (p.Ser314Arg) variant has been reported in ClinVar, where most submissions are classified as likely benign or benign, with additional submissions classified as uncertain significance.
In gnomAD v4.1, this variant is present at an overall allele frequency of 0.0000223049 (36/1613998 alleles), and the grpmax filtering allele frequency is 0.00027673, which is above the MSH6 BS1 threshold of 0.00022 and below the BA1 threshold of 0.0022.
SpliceAI predicts no significant splice impact for this variant, with a maximum delta score of 0.00; however, no HCI prior probability result was identified to support missense PP3 or BP4 assessment under the MSH6 specification.
No criteria match.
Met · 1
BS1 StrongThis variant is present in gnomAD v4.1 with a grpmax filtering allele frequency of 0.00027673 (0.027673%), which is above the MSH6 BS1 threshold of 0.00022 (0.022%) and below the BA1 threshold of 0.0022 (0.22%); this supports BS1 at Strong strength. Details ▾Hide ▴
Rule
GnomAD v4 Grpmax filtering allele frequency ≥ 0.00022 and < 0.0022 (0.022-0.22%) and variant is excluded as founder pathogenic variant.
Evidence considered
- gnomAD v4.1 total AF 2.23049e-05 (36/1613998 alleles)
- gnomAD v4.1 highest population AF 0.000387121 in African/African American population
- gnomAD v4.1 grpmax FAF 0.00027673
- MSH6 BS1 threshold >=0.00022 and <0.0022
Sources
Not met · 3 · evaluated, threshold not reached
PVS1 This variant is a missense substitution, p.(Ser314Arg), and does not fall into the MSH6 PVS1 null-variant categories. The generic PVS1 assessment also indicates that this variant is not a nonsense, frameshift, or canonical ±1/2 splice variant, so PVS1 is not met. Details ▾Hide ▴
Rule
MSH6 PVS1 applies to specified loss-of-function variant classes, including qualifying nonsense, frameshift, certain splice, large genomic alteration, and confirmed splicing-aberrant variants.
Evidence considered
- MSH6 is PVS1-eligible at the gene level
- Variant p.(Ser314Arg) classified outside generic null-variant PVS1 buckets
- Not a canonical splice consensus variant
Sources
PM2 This variant is present in gnomAD v4.1 at an overall allele frequency of 0.0000223049 (36/1613998 alleles), which is above the MSH6 PM2 threshold of less than 0.00002 (<1 in 50,000 alleles); therefore PM2 is not met. Details ▾Hide ▴
Rule
Absent/extremely rare allele frequency <0.00002 (<1 in 50,000 alleles) in gnomAD v4 dataset.
Evidence considered
- gnomAD v4.1 total AF 2.23049e-05 (36/1613998 alleles)
- MSH6 PM2 threshold <0.00002
Sources
BA1 This variant is present in gnomAD v4.1, but the grpmax filtering allele frequency is 0.00027673 (0.027673%), which is below the MSH6 BA1 threshold of 0.0022 (0.22%); therefore BA1 is not met. Details ▾Hide ▴
Rule
GnomAD v4 Grpmax filtering allele frequency ≥ 0.0022 (0.22%) and variant is excluded as founder pathogenic variant.
Evidence considered
- gnomAD v4.1 grpmax FAF 0.00027673
- MSH6 BA1 threshold >=0.0022
Sources
Not assessed · 13 · no assessment recorded
PS1 No VCEP-established pathogenic or likely pathogenic alternate nucleotide change producing the same amino acid substitution was identified, so PS1 cannot be applied. Details ▾Hide ▴
Rule
Same amino acid substitution as a previously established Pathogenic missense variant for Strong, or as a previously established Likely Pathogenic missense variant with normal RNA result and PM2_Supporting met for Moderate.
Evidence considered
- No same-amino-acid VCEP comparator identified in reviewed MMR pilot materials
Still missing
- No qualifying same-amino-acid VCEP comparator variant was identified.
- Normal RNA evidence for any potential LP comparator variant was not identified.
Sources
cspec ↗vcep_vcep_pilot_variants_mmr
PS2 No confirmed de novo occurrence data were identified, so PS2 cannot be applied. Details ▾Hide ▴
Rule
Apply by de novo point system: 0.5 Supporting, 1-1.5 Moderate, 2-3.5 Strong, ≥4 Very Strong.
Evidence considered
- No PS2 de novo evidence identified
Still missing
- No maternity/paternity-confirmed de novo observations were identified.
Sources
PS3 No variant-specific calibrated functional assay or qualifying mismatch repair defect result was identified for this variant, so PS3 cannot be applied. Details ▾Hide ▴
Rule
Calibrated functional assays with functional odds for pathogenicity >18.7 for Strong, >4.3 and ≤18.7 or qualifying MMR function defect by flowchart for Moderate, or >2.08 and ≤4.3 for Supporting.
Evidence considered
- No variant-specific PS3-supporting functional result identified in MMR VCEP functional materials
Still missing
- No qualifying pathogenic functional assay result was identified for p.(Ser314Arg).
Sources
PM3 No data supporting occurrence with another pathogenic MSH6 variant in the constitutional mismatch repair deficiency framework were identified, so PM3 cannot be applied. Details ▾Hide ▴
Rule
Apply by point system: 0.5 Supporting, 1-1.5 Moderate, 2-3.5 Strong, ≥4 Very Strong.
Evidence considered
- No PM3 evidence identified
Still missing
- No PM3 point-based trans observations were identified.
Sources
PM5 No VCEP-established pathogenic or likely pathogenic missense variant at codon 314 was identified for this review, and PP3 is not met for this variant; therefore PM5 cannot be applied. Details ▾Hide ▴
Rule
Different missense change at the same residue as a VCEP-established Pathogenic missense variant for Moderate, or Likely Pathogenic missense variant for Supporting; PM5 requires PP3 support for the new missense change.
Evidence considered
- No codon 314 VCEP comparator identified in reviewed MMR pilot materials
- PP3 not assessed/met
Still missing
- No qualifying same-residue VCEP comparator missense variant was identified.
- PP3 is not available to support PM5 use.
Sources
cspec ↗vcep_vcep_pilot_variants_mmr
PP1 No family segregation data with a calculable Bayes likelihood ratio were identified, so PP1 cannot be applied. Details ▾Hide ▴
Rule
Co-segregation with disease in pedigree(s) with a combined Bayes Likelihood Ratio >2.08 for Supporting, >4.3 for Moderate, or >18.7 in at least 2 families for Strong.
Evidence considered
- No PP1 segregation evidence identified
Still missing
- No pedigree-based Bayes likelihood ratio was identified.
Sources
PP3 This is a missense variant. The MSH6 missense PP3 rule requires an HCI prior probability above 0.68 for Supporting or above 0.81 for Moderate, and no HCI prior result was identified. SpliceAI predicts no significant splice impact with a max delta score of 0.00, so the non-canonical splicing branch of PP3 is also not met. Details ▾Hide ▴
Rule
Missense variant with HCI prior probability for pathogenicity >0.68 and ≤0.81 for Supporting or >0.81 for Moderate; alternatively non-canonical splicing nucleotides with SpliceAI delta score ≥0.2.
Evidence considered
- Missense variant p.(Ser314Arg)
- SpliceAI max delta score 0.00
- MSH6 missense PP3 thresholds HCI prior >0.68 or >0.81
Still missing
- No HCI prior probability result was identified for missense PP3 assessment.
Sources
PP4 No tumor microsatellite instability or mismatch repair immunohistochemistry findings were identified for this case, so PP4 cannot be applied. Details ▾Hide ▴
Rule
1 qualifying CRC/endometrial MSI-H tumor or consistent MMR protein loss for Supporting, 2 independent qualifying tumors for Moderate, or ≥3 independent qualifying tumors in ≥2 families for Strong.
Evidence considered
- No PP4 tumor phenotype evidence identified
Still missing
- No CRC or endometrial MSI-H data were identified.
- No MMR protein expression data were identified.
Sources
BS2 No confirmed in trans co-occurrence with a known pathogenic MSH6 variant in an individual without evidence of constitutional mismatch repair deficiency was identified, so BS2 cannot be applied. Details ▾Hide ▴
Rule
Co-occurrence in trans with a known pathogenic sequence variant in the same gene in a patient with colorectal cancer after age 45 (or other LS cancer above the median age of onset for that cancer in LS), and who has no previous or current evidence of clinical manifestations of CMMRD. Confirmation of phase requires testing of parents or offspring.
Evidence considered
- No phase-confirmed co-occurrence evidence identified
Still missing
- Phase-confirmed co-occurrence data were not identified.
- Clinical information needed to exclude CMMRD was not identified.
Sources
cspec ↗vcep_table_for_cmmrd_diagnosis
BS3 No variant-specific calibrated functional assay or qualifying proficient-function result was identified for this variant, so BS3 cannot be applied. Details ▾Hide ▴
Rule
Calibrated functional assays with functional odds for pathogenicity ≤ 0.05 OR variant-specific proficient function in protein and mRNA-based lab assays as per MMR functional assay flowchart at Supporting strength.
Evidence considered
- No variant-specific BS3-supporting functional result identified in MMR VCEP functional materials
Still missing
- No qualifying benign functional assay result was identified for p.(Ser314Arg).
Sources
BS4 No segregation dataset showing lack of co-segregation with disease was identified, so BS4 cannot be applied. Details ▾Hide ▴
Rule
Lack of co-segregation with disease in pedigree(s) with a combined Bayes Likelihood Ratio <0.05 for Strong or >0.05 and ≤0.48 for Supporting.
Evidence considered
- No BS4 segregation evidence identified
Still missing
- No pedigree-based Bayes likelihood ratio was identified.
Sources
BP4 This is a missense variant. The MSH6 missense BP4 rule requires an HCI prior probability of pathogenicity below 0.11, and no HCI prior result was identified. SpliceAI predicts no significant splice impact with a max delta score of 0.00, but the intronic/synonymous SpliceAI branch of BP4 does not apply to this missense change. Details ▾Hide ▴
Rule
Missense variant with HCI-prior probability of pathogenicity <0.11 OR for intronic and synonymous variants SpliceAI predicts no splicing impact with delta score ≤0.1.
Evidence considered
- Missense variant p.(Ser314Arg)
- SpliceAI max delta score 0.00
- MSH6 missense BP4 threshold HCI prior <0.11
Still missing
- No HCI prior probability result was identified for missense BP4 assessment.
Sources
BP5 No tumor profile showing mismatch between the observed tumor findings and MSH6-related disease was identified, so BP5 cannot be applied. Details ▾Hide ▴
Rule
2 or 3 qualifying tumors for Supporting or ≥4 qualifying tumors for Strong with MSS/no loss of MMR protein expression or loss inconsistent with the gene demonstrating variation; alternate MLH1-methylation/BRAF pathway also allowed per CSPEC.
Evidence considered
- No BP5 tumor evidence identified
Still missing
- No qualifying MSS or inconsistent MMR protein expression tumor data were identified.
Sources
Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴
PS4 N/APS4 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks PS4 not applicable
Sources
PM1 N/APM1 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks PM1 not applicable
Sources
PM4 N/APM4 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks PM4 not applicable
Sources
PM6 N/APM6 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks PM6 not applicable
Sources
PP2 N/APP2 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks PP2 not applicable
Sources
PP5 N/APP5 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks PP5 not applicable
Sources
BP1 N/ABP1 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks BP1 not applicable
Sources
BP2 N/ABP2 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks BP2 not applicable
Sources
BP3 N/ABP3 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
Not Applicable for this VCEP.
Evidence considered
- MSH6 CSPEC marks BP3 not applicable
Sources
BP6 N/ABP6 is not applicable for MSH6 under this gene-specific framework. Details ▾Hide ▴
Rule
This criterion is not for use as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee.
Evidence considered
- MSH6 CSPEC marks BP6 not applicable
Sources
BP7 N/AThis variant is a missense substitution, not a synonymous or qualifying deep intronic change, so BP7 does not apply. Details ▾Hide ▴
Rule
A synonymous (silent) or intronic variant at or beyond -21/+7 (5′/3′ exonic).
Evidence considered
- Variant consequence p.(Ser314Arg) missense
Sources
Identifiers
- Gene
- MSH6
- Transcript
- NM_000179.3
- Coding (HGVS c.)
- NM_000179.3:c.942C>G
- Protein (HGVS p.)
- NP_000170.1:p.(Ser314Arg)
- GRCh38
- chr2:47798925 C>G
- GRCh37
- chr2:48026064 C>G
Gene diagram
Every interpreted variant in MSH6, mapped onto the exon structure of NM_000179.3. Select a row to find it on the plot.
MSH6NM_000179.3
Fetching transcript structure from UCSC…
Exons
—
Transcript span
—
Strand
—
Variants mapped
—
Source
UCSC ncbiRefSeqCurated
All variants in MSH6
—
Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
36 / 1,613,998 alleles
AF 2.23e-05 · 0 homozygotes · FAF 0.000277
gnomAD v2.1
15 / 282,682 alleles
AF 5.31e-05 · 0 homozygotes · FAF 0.00038
By genetic ancestry
gnomAD v4.1
AF 2.2e-05 · 36 / 1,613,998 alleles · 0 hom · FAF 0.00028
| African/African American29 / 74,912 | 0.00039 |
| Remaining individuals3 / 62,482 | 4.8e-05 |
| Admixed American1 / 59,990 | 1.7e-05 |
| European (non-Finnish)3 / 1,180,038 | 2.5e-06 |
0 alternate alleles recorded in 6 other groups: European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish.
gnomAD v2.1
AF 5.3e-05 · 15 / 282,682 alleles · 0 hom · FAF 0.00038
| African/African American14 / 24,948 | 0.00056 |
| Admixed American1 / 35,426 | 2.8e-05 |
0 alternate alleles recorded in 6 other groups: Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), Remaining individuals, South Asian.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 2.23049e-05; MAF= 0.00223%, 36/1613998 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000387121; MAF= 0.03871%, 29/74912 alleles, homozygotes = 0); grpmax FAF= 0.00027673.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 5.30632e-05; MAF= 0.00531%, 15/282682 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000561167; MAF= 0.05612%, 14/24948 alleles, homozygotes = 0); grpmax FAF= 0.00037952.
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 This is a missense variant. The MSH6 missense PP3 rule requires an HCI prior probability above 0.68 for Supporting or above 0.81 for Moderate, and no HCI prior result was identified. SpliceAI predicts no significant splice impact with a max delta score of 0.00, so the non-canonical splicing branch of PP3 is also not met. Details ▾Hide ▴
Rule
Missense variant with HCI prior probability for pathogenicity >0.68 and ≤0.81 for Supporting or >0.81 for Moderate; alternatively non-canonical splicing nucleotides with SpliceAI delta score ≥0.2.
Evidence considered
- Missense variant p.(Ser314Arg)
- SpliceAI max delta score 0.00
- MSH6 missense PP3 thresholds HCI prior >0.68 or >0.81
Still missing
- No HCI prior probability result was identified for missense PP3 assessment.
Sources
BP4 This is a missense variant. The MSH6 missense BP4 rule requires an HCI prior probability of pathogenicity below 0.11, and no HCI prior result was identified. SpliceAI predicts no significant splice impact with a max delta score of 0.00, but the intronic/synonymous SpliceAI branch of BP4 does not apply to this missense change. Details ▾Hide ▴
Rule
Missense variant with HCI-prior probability of pathogenicity <0.11 OR for intronic and synonymous variants SpliceAI predicts no splicing impact with delta score ≤0.1.
Evidence considered
- Missense variant p.(Ser314Arg)
- SpliceAI max delta score 0.00
- MSH6 missense BP4 threshold HCI prior <0.11
Still missing
- No HCI prior probability result was identified for missense BP4 assessment.
Sources
BP7 N/AThis variant is a missense substitution, not a synonymous or qualifying deep intronic change, so BP7 does not apply. Details ▾Hide ▴
Rule
A synonymous (silent) or intronic variant at or beyond -21/+7 (5′/3′ exonic).
Evidence considered
- Variant consequence p.(Ser314Arg) missense
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.188. BayesDel score = -0.304016.
0 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
36 / 1,613,998 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Captured SpliceAI source record
Open source ↗
ClinVar
Captured ClinVar source record
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/1578294885
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/229741/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/2-48026064-C-G?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr2-47798925-C-G?dataset=gnomad_r4
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000179.3%3Ac.942C…
- OncoKB ↗www.oncokb.org/gene/MSH6/S314R
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=105096213
- 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= 2.23049e-05; MAF= 0.00223%, 36/1613998 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000387121; MAF= 0.03871%, 29/74912 alleles, homozygotes = 0); grpmax FAF= 0.00027673.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 5.30632e-05; MAF= 0.00531%, 15/282682 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000561167; MAF= 0.05612%, 14/24948 alleles, homozygotes = 0); grpmax FAF= 0.00037952.
ClinVar
This variant has been reported in ClinVar as Likely benign (6 clinical laboratories) and as Uncertain significance (4 clinical laboratories) and as Likely Benign (1 clinical laboratory) and as Benign (1 clinical laboratory).
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00). REVEL score = 0.188. BayesDel score = -0.304016.
Functional
OncoKB has not reviewed this specific variant; no variant-level oncogenicity or biological effect is available. Gene-level context: MSH6, a DNA mismatch repair protein, is frequently mutated in colorectal, small bowel, and endometrial cancers.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV99316054, n = 1 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.