About CDH1
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
CDH1 c.48+6_48+7delinsTT, p.?
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 CDH1 VCEP v3.1. 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: 1
Benign evidence criteria: 0
Pathogenic criteria applied · 1
PM2Supporting
PM2 · supporting
NM_004360.5:c.48+6_48+7delinsTT is absent from gnomAD v2.1, v4.1, and gnomAD-Canada v1.0, meeting the CDH1 VCEP PM2_Supporting criterion (≤1 in 100,000 alleles). The VCEP specifies PM2 at supporting strength with the requirement that coverage of CDH1 in the population database be at least 30x.
Benign criteria applied · 0
No benign criterion marked as applied in the recorded assessment.
Recorded classification: Uncertain significance
ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1 v3.1 lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: PM2 supporting; combination = 1 supporting, which maps to VUS.
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
Not recorded
gnomAD v4.1 allele counts were not recorded for this variant.
gnomAD v2.1
Absent from gnomAD v2.1.
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
SpliceAI score
0.060 maximum delta
Recorded SpliceAI maximum delta score: 0.060. Refer to the recorded PP3/BP4 rationale for interpretation.
No listed criterion applied
SpliceAI ↗
ClinVar submissions
5 reported laboratory submissions
5 Likely benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.
Context only
ClinVar ↗
No screenshot for this evidence
Functional evidence
Not recorded
No standalone functional evidence summary is recorded in evidence_summary.functional.
No listed criterion applied
OncoKB ↗
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Context only
COSMIC ↗
For specialists
Technical detail
ACMG/AMP criteria under ClinGen CDH1 VCEP v3.1, with the data and sources behind each one.
29 criteria with recorded statuses: 1 met · 16 not met · 0 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_004360.5:c.48+6_48+7delinsTT is an intronic variant affecting positions +6 and +7 of CDH1 intron 1, outside the canonical splice consensus sequence.
This variant is absent from gnomAD v2.1 and v4.1 population databases, meeting the CDH1 VCEP PM2_Supporting criterion (≤1 in 100,000 alleles).
SpliceAI predicts no significant splice impact (max delta score 0.06). However, only SpliceAI data is available among the seven splicing predictors specified by the CDH1 VCEP, which is insufficient to meet PP3 or BP4 thresholds requiring at least three concordant predictors.
No RNA functional studies, de novo occurrence data, case-control data, co-segregation data, or family studies meeting HDGC criteria were identified for this variant.
This variant has been reported in ClinVar as Likely benign (VariationID 136068) with a 1-star review status (criteria provided, single submitter). The ClinVar-associated publications are clinical practice guidelines and policy statements that do not provide variant-specific evidence.
With only PM2_Supporting met and no other pathogenic or benign criteria satisfied, this variant is classified as a Variant of Uncertain Significance under the CDH1 VCEP framework (v3.1). The ClinVar Likely benign classification has low evidentiary weight (1-star) and cannot independently drive a benign classification.
No criteria match.
Met · 1
PM2 SupportingNM_004360.5:c.48+6_48+7delinsTT is absent from gnomAD v2.1, v4.1, and gnomAD-Canada v1.0, meeting the CDH1 VCEP PM2_Supporting criterion (≤1 in 100,000 alleles). The VCEP specifies PM2 at supporting strength with the requirement that coverage of CDH1 in the population database be at least 30x. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1 (0 alleles)
- Absent from gnomAD v4.1 (0 alleles)
- Absent from gnomAD-Canada v1.0 (0 alleles)
- Meets CDH1 VCEP PM2_Supporting: ≤1 in 100
- 000 alleles
Still missing
- gnomAD coverage at CDH1 locus not independently verified for this indel
Sources
Not met · 16 · evaluated, threshold not reached
PVS1 NM_004360.5:c.48+6_48+7delinsTT is an intronic variant at positions +6 and +7 of intron 1, outside the canonical splice consensus (±1, ±2). The CDH1 VCEP PVS1 decision tree applies PVS1_Strong to canonical splice site variants only; this variant does not disrupt the canonical splice donor or acceptor. SpliceAI predicts no significant splice impact (max delta score 0.06). No RNA studies are available to demonstrate an effect on transcript composition. Details ▾Hide ▴
Evidence considered
- Variant is at intronic positions +6/+7
- not a canonical splice site (±1
- ±2)
- SpliceAI max delta score 0.06 — no significant splice impact predicted
- CDH1 VCEP reserves PVS1 for canonical splice site variants per the modified PVS1 decision tree
Still missing
- No RNA splicing assay data available
Sources
PS2 No de novo occurrence data identified for NM_004360.5:c.48+6_48+7delinsTT. The CDH1 VCEP requires patients meeting HDGC individual phenotype criteria with parental confirmation. No such reports were found in the literature or ClinVar submissions. Details ▾Hide ▴
Evidence considered
- No de novo reports identified in ClinVar submissions or literature
Still missing
- No de novo testing data available
Sources
PS3 The CDH1 VCEP PS3 criterion requires RNA assay data demonstrating abnormal transcripts (out-of-frame for strong, in-frame for moderate). No RNA functional studies were identified for NM_004360.5:c.48+6_48+7delinsTT. SpliceAI predicts no significant splice impact (max delta 0.06), and no experimental RNA data is available to evaluate transcript composition. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.06 — no significant splice impact predicted
- No RNA assay data available for this variant
- CDH1 VCEP requires RNA assay demonstrating abnormal transcripts for PS3
Still missing
- No RNA functional studies available
Sources
PS4 The CDH1 VCEP PS4 criterion requires families meeting HDGC criteria (1 family = supporting, 2-3 = moderate, 4-15 = strong, ≥16 = very strong). No case-level data identifying families with HDGC meeting the 2020 updated clinical practice guidelines (PMID: 32758476) were found for this variant. The ClinVar-associated publications are clinical practice guidelines and policy statements that do not report individual cases with this variant. Details ▾Hide ▴
PM6 The CDH1 VCEP PM6 criterion requires patients meeting HDGC individual phenotype criteria without parental confirmation. No such de novo occurrence data was identified for NM_004360.5:c.48+6_48+7delinsTT. Details ▾Hide ▴
Evidence considered
- No assumed de novo reports identified
Still missing
- No de novo data available
Sources
PP1 No co-segregation data is available for NM_004360.5:c.48+6_48+7delinsTT. The CDH1 VCEP requires 3-4 informative meioses for supporting, 5-6 for moderate, and ≥7 for strong PP1. No family studies with this variant were identified. Details ▾Hide ▴
Evidence considered
- No co-segregation data available
Still missing
- No family segregation studies available
Sources
PP3 The CDH1 VCEP PP3 criterion requires at least three in silico splicing predictors in agreement (SpliceAI, MaxEntScan, SSF, GeneSplicer, HSF, TraP, varSEAK) for supporting strength, or a well-characterized variant at the same splice site with similar/worse predictions for moderate. Only SpliceAI data is available, which shows a max delta score of 0.06 (no significant splice impact). Insufficient predictor data to meet the VCEP threshold. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.06 — no significant splice impact predicted
- Only 1 of 7 required splicing predictors available
- insufficient to meet VCEP PP3 threshold
- VCEP PP3 cannot be applied to canonical splice sites
- but this variant is at +6/+7 (non-canonical)
Still missing
- MaxEntScan
- SSF
- GeneSplicer
- HSF
- TraP
- varSEAK predictions not available
Sources
BA1 The CDH1 VCEP BA1 criterion requires a MAF cutoff of 0.2%. NM_004360.5:c.48+6_48+7delinsTT is absent from gnomAD v2.1, v4.1, and gnomAD-Canada v1.0, falling well below the BA1 threshold. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1
- Absent from gnomAD v4.1
- VCEP BA1 cutoff is 0.2%
- variant allele frequency is 0%
Sources
BS1 The CDH1 VCEP BS1 criterion requires a MAF cutoff of 0.1%. NM_004360.5:c.48+6_48+7delinsTT is absent from gnomAD v2.1, v4.1, and gnomAD-Canada v1.0, falling below the BS1 threshold. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1
- Absent from gnomAD v4.1
- VCEP BS1 cutoff is 0.1%
- variant allele frequency is 0%
Sources
BS2 The CDH1 VCEP BS2 requires the variant to be seen in ≥10 individuals without GC, DGC, SRC tumors, or LBC with families not suggestive of HDGC (strong), or ≥3 individuals (supporting). No such clinical observation data is available for this variant. Details ▾Hide ▴
Evidence considered
- No clinical observation data available for healthy individuals
Still missing
- No clinical phenotype data for variant carriers
Sources
BS3 The CDH1 VCEP BS3 criterion requires functional RNA studies demonstrating no impact on transcript composition and is restricted to synonymous, intronic, or non-coding variants. No RNA functional studies were identified for NM_004360.5:c.48+6_48+7delinsTT. SpliceAI prediction alone (max delta 0.06) does not constitute a functional study under the VCEP rule. Details ▾Hide ▴
Evidence considered
- SpliceAI predicts no significant splice impact (max delta 0.06)
- No RNA functional studies available for this variant
- VCEP BS3 requires functional RNA studies
- in silico prediction alone insufficient
Still missing
- No RNA functional studies available
Sources
BS4 No segregation data is available for NM_004360.5:c.48+6_48+7delinsTT to evaluate lack of segregation among affected family members. Details ▾Hide ▴
Evidence considered
- No segregation data available
Still missing
- No family segregation studies available
Sources
BP2 The CDH1 VCEP BP2 requires observation of the variant in trans with a known pathogenic variant (strong) or in cis/unknown phase with a pathogenic variant, or in the homozygous state in gnomAD (supporting). No such evidence is available for this variant. The variant is absent from gnomAD and no phase data exists. Details ▾Hide ▴
Evidence considered
- Variant absent from gnomAD — no homozygous observations
- No phase data with pathogenic CDH1 variants available
Still missing
- No phase data available
Sources
BP4 The CDH1 VCEP BP4 criterion requires at least three in silico splicing predictors in agreement (SpliceAI, MaxEntScan, SSF, GeneSplicer, HSF, TraP, varSEAK) suggesting no impact. Only SpliceAI data is available (max delta 0.06, predicting no significant splice impact). A single predictor is insufficient to meet the VCEP threshold of three concordant predictors. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.06 — no significant splice impact predicted
- Only 1 of 7 required splicing predictors available
- VCEP requires ≥3 in agreement
Still missing
- MaxEntScan
- SSF
- GeneSplicer
- HSF
- TraP
- varSEAK predictions not available
Sources
BP5 The CDH1 VCEP BP5 criterion applies when a pathogenic/likely pathogenic variant is identified in an alternate gene known to cause HDGC (currently only CTNNA1). No evidence of an alternate molecular diagnosis was identified for the individual carrying this variant. Details ▾Hide ▴
Evidence considered
- No evidence of an alternate molecular basis (e.g.
- CTNNA1 variant) identified
Still missing
- No data on alternate gene testing for this individual
Sources
BP7 The CDH1 VCEP BP7 criterion applies to synonymous and intronic variants at or beyond +7 to -21 locations. NM_004360.5:c.48+6_48+7delinsTT affects intronic positions +6 and +7. Position +6 is not at or beyond the +7 threshold specified by the VCEP rule; therefore BP7 does not apply to this variant. Details ▾Hide ▴
Evidence considered
- Variant affects intronic positions +6 and +7
- BP7 range is +7 to -21
- position +6 is outside the permissible range
- The +6 position falls short of the VCEP BP7 boundary
Sources
Not applicable · 12· recorded as not applicable Show reasons ▾Hide reasons ▴
PS1 VCEPPS1 is declared Not Applicable by the CDH1 VCEP (ClinGen CDH1 Expert Panel Specifications v3.1). Details ▾Hide ▴
PM1 VCEPPM1 is declared Not Applicable by the CDH1 VCEP (ClinGen CDH1 Expert Panel Specifications v3.1). Details ▾Hide ▴
PM3 VCEPPM3 applies to recessive disorders. CDH1-associated hereditary diffuse gastric cancer is an autosomal dominant condition. PM3 is not applicable. Details ▾Hide ▴
No further detail was recorded.
PM4 N/AThe CDH1 VCEP restricts PM4 to stop-loss variants only (example: c.2647T>C, p.Ter883Glnext*29). NM_004360.5:c.48+6_48+7delinsTT is an intronic indel, not a stop-loss variant. Details ▾Hide ▴
PM5 N/AThe CDH1 VCEP repurposes PM5_Supporting for nonsense and frameshift variants predicted/proven to undergo NMD or located upstream of the last known pathogenic truncating variant (c.2506G>T, p.Glu836Ter), with site-specific recommendations for canonical splicing variants. NM_004360.5:c.48+6_48+7delinsTT is an intronic indel at positions +6/+7, which is neither a nonsense/frameshift variant nor a canonical splice site variant (±1, ±2). The VCEP PM5 rule does not apply. Details ▾Hide ▴
Evidence considered
- VCEP PM5_Supporting applies to nonsense/frameshift variants or canonical splicing variants
- This variant is an intronic indel at +6/+7
- not a canonical splice site and not nonsense/frameshift
- PM5 candidate search confirmed no applicable comparators
Sources
cspec ↗pm5_candidates
PP2 VCEPPP2 is declared Not Applicable by the CDH1 VCEP (ClinGen CDH1 Expert Panel Specifications v3.1). Details ▾Hide ▴
PP4 VCEPPP4 is declared Not Applicable by the CDH1 VCEP (ClinGen CDH1 Expert Panel Specifications v3.1). Details ▾Hide ▴
PP5 VCEPPP5 is declared Not Applicable by the CDH1 VCEP per the ClinGen Sequence Variant Interpretation VCEP Review Committee recommendation. The ClinVar entry (VariationID 136068) is classified as Likely benign with a 1-star review status (criteria provided, single submitter), which does not meet the 3-star expert panel threshold for the global PP5 override. Details ▾Hide ▴
BP1 VCEPBP1 is declared Not Applicable by the CDH1 VCEP (ClinGen CDH1 Expert Panel Specifications v3.1). Details ▾Hide ▴
BP3 VCEPBP3 is declared Not Applicable by the CDH1 VCEP. This criterion applies to in-frame deletions/insertions in repetitive regions without known function, and the VCEP has determined it is not applicable for CDH1. Details ▾Hide ▴
BP6 VCEPBP6 is declared Not Applicable by the CDH1 VCEP per the ClinGen Sequence Variant Interpretation VCEP Review Committee recommendation. The ClinVar entry (VariationID 136068) is classified as Likely benign with a 1-star review status (criteria provided, single submitter), which does not meet the 3-star expert panel threshold for the global BP6 override. Details ▾Hide ▴
PS5 N/APS5 is not defined in the CDH1 VCEP criteria (v3.1) and no reputable source has recently reported this variant as pathogenic. ClinVar classification is Likely benign (1-star). Details ▾Hide ▴
Identifiers
- Gene
- CDH1
- Transcript
- NM_004360.5
- Coding (HGVS c.)
- NM_004360.5:c.48+6_48+7delinsTT
- Protein (HGVS p.)
- NP_004351.1:p.?
- GRCh38
- chr16:68737469 CC>TT
- GRCh37
- chr16:68771372 CC>TT
- ClinVar
- 136068
Gene diagram
Every interpreted variant in CDH1, mapped onto the exon structure of NM_004360.5. Select a row to find it on the plot.
CDH1NM_004360.5
Fetching transcript structure from UCSC…
Exons
—
Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in CDH1
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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
Allele count data not recorded
gnomAD v2.1
Allele count data not recorded
gnomAD-Canada v1.0
Allele count data not recorded
Statements
gnomAD v4.1
Absent from gnomAD v4.1.
gnomAD v2.1
Absent from gnomAD v2.1.
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
PP3 The CDH1 VCEP PP3 criterion requires at least three in silico splicing predictors in agreement (SpliceAI, MaxEntScan, SSF, GeneSplicer, HSF, TraP, varSEAK) for supporting strength, or a well-characterized variant at the same splice site with similar/worse predictions for moderate. Only SpliceAI data is available, which shows a max delta score of 0.06 (no significant splice impact). Insufficient predictor data to meet the VCEP threshold. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.06 — no significant splice impact predicted
- Only 1 of 7 required splicing predictors available
- insufficient to meet VCEP PP3 threshold
- VCEP PP3 cannot be applied to canonical splice sites
- but this variant is at +6/+7 (non-canonical)
Still missing
- MaxEntScan
- SSF
- GeneSplicer
- HSF
- TraP
- varSEAK predictions not available
Sources
BP4 The CDH1 VCEP BP4 criterion requires at least three in silico splicing predictors in agreement (SpliceAI, MaxEntScan, SSF, GeneSplicer, HSF, TraP, varSEAK) suggesting no impact. Only SpliceAI data is available (max delta 0.06, predicting no significant splice impact). A single predictor is insufficient to meet the VCEP threshold of three concordant predictors. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.06 — no significant splice impact predicted
- Only 1 of 7 required splicing predictors available
- VCEP requires ≥3 in agreement
Still missing
- MaxEntScan
- SSF
- GeneSplicer
- HSF
- TraP
- varSEAK predictions not available
Sources
BP7 The CDH1 VCEP BP7 criterion applies to synonymous and intronic variants at or beyond +7 to -21 locations. NM_004360.5:c.48+6_48+7delinsTT affects intronic positions +6 and +7. Position +6 is not at or beyond the +7 threshold specified by the VCEP rule; therefore BP7 does not apply to this variant. Details ▾Hide ▴
Evidence considered
- Variant affects intronic positions +6 and +7
- BP7 range is +7 to -21
- position +6 is outside the permissible range
- The +6 position falls short of the VCEP BP7 boundary
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.06).
7 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Recorded publications
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PMID 25741868 ↗Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.This is the ACMG/AMP 2015 standards and guidelines for sequence variant interpretation. It provides the general framework for variant classification but does not discuss NM_004360.5:c.48+6_48+7delinsTT or any specific CDH1 intronic variant.Does not name this variant
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PMID 20065170 ↗American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.Robson ME et al. · 2010ASCO policy statement on genetic and genomic testing for cancer susceptibility. Discusses general principles of germline testing including for stomach cancer predisposition, but does not mention NM_004360.5:c.48+6_48+7delinsTT or any specific CDH1 variant.Does not name this variant
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PMID 20301318 ↗Diffuse Gastric and Lobular Breast Cancer Syndrome.Adam MP et al. · 1993GeneReviews entry on Diffuse Gastric and Lobular Breast Cancer Syndrome (HDGC). Provides clinical characteristics and management recommendations for CDH1-associated HDGC but does not mention NM_004360.5:c.48+6_48+7delinsTT.Does not name this variant
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PMID 25394175 ↗A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Hampel H et al. · 2015ACMG/NSGC practice guideline on referral indications for cancer predisposition assessment. Includes CDH1/HDGC referral criteria (diffuse gastric cancer, lobular breast cancer) but does not mention NM_004360.5:c.48+6_48+7delinsTT or any specific CDH1 sequence variant.Does not name this variant
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PMID 26324357 ↗American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.Robson ME et al. · 2015ASCO 2015 policy statement update on genetic and genomic testing for cancer susceptibility. Mentions CDH1 in the context of hereditary diffuse gastric cancer and multigene panel testing but does not discuss NM_004360.5:c.48+6_48+7delinsTT.Does not name this variant
Quoted passage
Some unexpected results, such as a mutation in TP53 (Li-Fraumeni syndrome) or CDH1 (hereditary diffuse gastric cancer), may have a significant impact on the patient and his or her family
Table 1; multigene panel testing section (mentions CDH1/HDGC generally)
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PMID 26389210 ↗Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version.PDQ Cancer Genetics Editorial Board · 2002PDQ cancer genetics summary on Genetics of Breast and Gynecologic Cancers. General reference on hereditary cancer syndromes including CDH1/HDGC. Does not mention NM_004360.5:c.48+6_48+7delinsTT.Does not name this variant
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Sherloc comprehensive refinement of the ACMG-AMP variant classification criteria. Provides a systematic framework for variant interpretation but does not discuss NM_004360.5:c.48+6_48+7delinsTT.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
Captured gnomAD v4.1 source record
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.060
Open source ↗
ClinVar
5 Likely benign
Open source ↗
COSMIC
Captured COSMIC 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/135637579
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/136068/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/16-68771372-CC-TT?dataset=gno…
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr16-68737469-CC-TT?dataset=…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/16-68737469-CC-TT
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_004360.5%3Ac.48%2…
- OncoKB ↗www.oncokb.org/gene/CDH1/?
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=CDH1+c.48+6_48+7delinsTT
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
Absent from gnomAD v4.1.
gnomAD v2.1
Absent from gnomAD v2.1.
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
ClinVar
This variant has been reported in ClinVar as Likely benign (5 clinical laboratories). (ClinVarID = 136068)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.06).
Somatic
This variant has not previously been reported in somatic cancers (COSMIC).