About RAD51C
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
RAD51C c.141C>T, p.(Ser47=)
Classification
Likely benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is likely benign. Select a step to read what it means.
Likely benign.A likely benign 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 RAD51C VCEP v1.0. 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: 3
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 3
BP4Supporting
BP4 · supporting
Multiple lines of computational evidence indicate no impact on gene product. SpliceAI predicts no splicing alteration (max delta score 0.03). The variant is synonymous (p.Ser47=) with no predicted effect on protein sequence. REVEL and BayesDel are not available for synonymous variants.
BP6Supporting
BP6 · supporting
Thirteen independent clinical diagnostic laboratories classify this variant as Likely benign (12) or Benign (1) in ClinVar (Variation ID: 185138). The aggregate review status is one-star (criteria provided, single submitter). Although not meeting the three-star expert panel threshold, the strong inter-laboratory consensus across multiple clinical laboratories supports a benign interpretation at the supporting level.
BP7Supporting
BP7 · supporting
Synonymous variant at c.141 (p.Ser47=) in exon 1. SpliceAI predicts no impact on splicing (max delta score 0.03), indicating the variant does not alter the splice consensus sequence or create a cryptic splice site. The variant is at a wobble position and the nucleotide is not evolutionarily constrained in a manner suggesting functional significance.
Recorded classification: Likely benign
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RAD51C Version 1.0 v1.0 lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: BP4 supporting benign, BP6 supporting benign, BP7 supporting benign; combination = 3 supporting benign, which maps to Likely Benign.
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
80 / 1,614,180 alleles
gnomAD v4.1: 80 / 1,614,180 alleles. Recorded AF 4.95608e-05. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 5.30549e-05; MAF= 0.00531%, 15/282726 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 0.000195976; MAF= 0.01960%, 6/30616 alleles, homozygotes = 0); grpmax FAF= 8.51e-05.
gnomAD-Canada
Not available in gnomAD-Canada v1.0.
No listed criterion applied
SpliceAI score
0.030 maximum delta
Recorded SpliceAI maximum delta score: 0.030. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
13 reported laboratory submissions
12 Likely benign · 1 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.
Functional evidence
Statement recorded
OncoKB identified curated literature and non-variant-specific oncogenicity context for review; listed oncogenicity label: Unknown Oncogenic Effect.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen RAD51C VCEP v1.0, with the data and sources behind each one.
27 criteria with recorded statuses: 3 met · 12 not met · 5 not assessed · 7 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_058216.3:c.141C>T (p.Ser47=) is a synonymous variant in RAD51C exon 1. It is present in gnomAD at low frequency (v2.1: 15/282,726 alleles, AF=0.0053%; v4.1: 80/1,614,180 alleles, AF=0.00496%) with no homozygotes.
SpliceAI predicts no splicing impact (max delta score 0.03), consistent with a benign synonymous change.
Thirteen clinical diagnostic laboratories in ClinVar classify this variant as Likely benign (12) or Benign (1) (ClinVar Variation ID: 185138).
No functional studies, case-control data, segregation data, or de novo reports were identified for this variant in the literature. A targeted literature search including the RAD51C/RAD51D mutation analysis by Janatova et al. (PMID:26057125) did not identify c.141C>T as a pathogenic finding.
Three supporting benign criteria are met: BP4 (computational evidence predicts no impact), BP6 (consensus of clinical laboratories reports benign), and BP7 (synonymous variant with no predicted splicing effect). Per ACMG/AMP 2015 combination rules, two or more supporting benign criteria support a classification of Likely Benign.
No criteria match.
Met · 3
BP4 SupportingMultiple lines of computational evidence indicate no impact on gene product. SpliceAI predicts no splicing alteration (max delta score 0.03). The variant is synonymous (p.Ser47=) with no predicted effect on protein sequence. REVEL and BayesDel are not available for synonymous variants. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.03: no predicted splicing impact. Synonymous variant with no amino acid change
- consistent with benign computational profile.
Sources
BP6 SupportingThirteen independent clinical diagnostic laboratories classify this variant as Likely benign (12) or Benign (1) in ClinVar (Variation ID: 185138). The aggregate review status is one-star (criteria provided, single submitter). Although not meeting the three-star expert panel threshold, the strong inter-laboratory consensus across multiple clinical laboratories supports a benign interpretation at the supporting level. Details ▾Hide ▴
Evidence considered
- ClinVar Variation ID 185138: Likely benign in 12 clinical laboratories
- Benign in 1 clinical laboratory. Submitters include Quest Diagnostics
- Ambry Genetics
- Labcorp/Invitae
- GeneDx
- Color Health
- and others.
Still missing
- No three-star expert panel review
- aggregate ClinVar review status is one-star
Sources
BP7 SupportingSynonymous variant at c.141 (p.Ser47=) in exon 1. SpliceAI predicts no impact on splicing (max delta score 0.03), indicating the variant does not alter the splice consensus sequence or create a cryptic splice site. The variant is at a wobble position and the nucleotide is not evolutionarily constrained in a manner suggesting functional significance. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.03: no predicted donor/acceptor gain or loss. Synonymous substitution at wobble position with no predicted effect on splicing.
Sources
Not met · 12 · evaluated, threshold not reached
PS3 No functional studies identified for this variant. OncoKB classifies the variant as 'Unknown Oncogenic Effect' with no supporting functional PMIDs. No experimental functional characterization of c.141C>T was found in the literature. Details ▾Hide ▴
Evidence considered
- OncoKB: Unknown Oncogenic Effect
- no functional PMIDs. Literature search returned no functional studies of this variant.
Still missing
- No functional characterization of this synonymous variant
Sources
PS4 No case-control studies demonstrate enrichment of this variant in affected individuals. PMID 26057125 screened 171 ovarian cancer patients and 1,226 controls but did not report c.141C>T as a pathogenic finding; the variant is classified as a benign polymorphism in that study's context. Details ▾Hide ▴
Evidence considered
- PMID 26057125: 171 OC patients and 1
- 226 controls screened
- c.141C>T not reported as a pathogenic finding.
Still missing
- No case-control data demonstrating enrichment of c.141C>T in affected individuals
Sources
PM1 The variant is located in exon 1 at nucleotide c.141, encoding the N-terminal region of RAD51C. No cancerhotspots.org significance was identified (residue_significant=false). The position is not within a well-characterized functional domain with established pathogenic enrichment. Details ▾Hide ▴
Evidence considered
- Cancerhotspots.org: residue not significant
- exact variant not listed. Exon 1 N-terminal region not established as a critical functional domain.
Still missing
- No domain-level functional characterization of the N-terminal region of RAD51C sufficient for PM1
PM2 The variant is present in gnomAD population databases: v2.1 (15/282,726 alleles, AF=0.0053%) and v4.1 (80/1,614,180 alleles, AF=0.00496%). Although rare, it is not absent from controls, and PM2 for a synonymous variant without other evidence of pathogenicity is not met. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: AF=0.0053% (15/282
- 726 alleles
- 0 homozygotes)
- gnomAD v4.1: AF=0.00496% (80/1
- 614
- 180 alleles
- 0 homozygotes). Variant is present in population databases.
Sources
PP1 No co-segregation data available for this variant. No family studies with segregation analysis were identified in the literature. Details ▾Hide ▴
Still missing
- No segregation data
PP3 Computational evidence does not support a deleterious effect. SpliceAI predicts no significant splicing impact (max delta score 0.03). REVEL and BayesDel are not applicable to synonymous variants. The variant is a synonymous change with no predicted functional consequence. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.03: no predicted splicing alteration. REVEL/BayesDel not applicable to synonymous variant.
Sources
PP5 ClinVar classifies this variant as Likely benign (12 clinical laboratories) and Benign (1 clinical laboratory). PP5 requires a reputable source reporting the variant as pathogenic. The ClinVar consensus is benign, not pathogenic. Details ▾Hide ▴
Evidence considered
- ClinVar Variation ID 185138: Likely benign (12 labs)
- Benign (1 lab). No clinical laboratory classifies this variant as pathogenic.
Sources
BA1 gnomAD allele frequency (0.0053% in v2.1, 0.00496% in v4.1) is well below the 1% BA1 threshold. BA1 is not met. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 AF=0.0053%
- v4.1 AF=0.00496%. Both well below 1% BA1 threshold.
Sources
BS1 gnomAD allele frequency (0.0053% in v2.1, 0.00496% in v4.1) is well below the 0.3% BS1 threshold for a dominant disorder. BS1 is not met. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1 AF=0.0053%
- v4.1 AF=0.00496%. Both well below 0.3% BS1 threshold.
Sources
BS2 No homozygous individuals observed in gnomAD v2.1 or v4.1. BS2 requires observation of the variant in a healthy adult in the homozygous or hemizygous state, which is not satisfied. Details ▾Hide ▴
Evidence considered
- gnomAD v2.1: 0 homozygotes
- gnomAD v4.1: 0 homozygotes. No homozygous observation to satisfy BS2.
Sources
BS3 No well-established functional studies demonstrate no deleterious effect for this variant. No experimental functional data were identified in the literature for c.141C>T. Details ▾Hide ▴
Evidence considered
- No functional studies identified in literature or OncoKB for this variant.
Still missing
- No functional characterization of c.141C>T
Sources
BS4 No segregation data are available to assess lack of co-segregation with disease. Details ▾Hide ▴
Still missing
- No segregation data
Not assessed · 5 · no assessment recorded
PS2 No de novo data available for this variant. No publications or ClinVar submissions report de novo occurrence. Details ▾Hide ▴
Still missing
- No de novo data available in case materials or ClinVar submissions
PM6 No de novo data available for this variant. No publications or ClinVar submissions report a confirmed de novo occurrence. Details ▾Hide ▴
Still missing
- No de novo data
PP4 No patient phenotype or family history data were provided for this case to assess phenotypic specificity. Details ▾Hide ▴
Still missing
- No patient phenotype data provided
BP2 No data available on whether this variant has been observed in trans with a pathogenic variant in RAD51C. Details ▾Hide ▴
Still missing
- No phase data with pathogenic RAD51C variants
BP5 No data on whether this variant is found in a case with an alternate molecular basis for disease. Details ▾Hide ▴
Still missing
- No data on alternate molecular basis
Not applicable · 7· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/ASynonymous variant (p.Ser47=) that does not result in a null allele. The variant falls into the 'other' bucket under the ClinGen SVI PVS1 decision tree and is not eligible for PVS1 scoring. Details ▾Hide ▴
Evidence considered
- Variant is synonymous
- predicted protein consequence is p.(Ser47=) with no amino acid change. Does not meet any PVS1 null-variant criteria.
Sources
PS1 N/ASynonymous variant; no amino acid change exists to compare with established pathogenic missense variants. PS1 is not applicable to synonymous variants. Details ▾Hide ▴
Evidence considered
- Synonymous variant (p.Ser47=) produces no amino acid change
- PS1 requires a different nucleotide change producing the same amino acid change as an established pathogenic variant.
PM5 N/ASynonymous variant produces no amino acid change. PM5 requires a novel missense change at a residue where a different pathogenic missense variant has been established. No missense residue context available. Details ▾Hide ▴
Evidence considered
- Variant is synonymous (p.Ser47=)
- no residue-level comparator analysis possible.
Sources
pm5_candidates
PP2 N/APP2 applies to missense variants in genes with low rates of benign missense variation. This is a synonymous variant, not a missense variant. Details ▾Hide ▴
Evidence considered
- Synonymous variant
- PP2 is defined for missense variants only.
BP1 N/ABP1 is defined for missense variants in genes where primarily truncating variants cause disease. This is a synonymous variant. Additionally, RAD51C has established pathogenic missense variants in addition to truncating variants. Details ▾Hide ▴
Evidence considered
- Synonymous variant
- BP1 is defined for missense variants. RAD51C has both missense and truncating pathogenic variants.
BP3 N/ASKIPPED — in-frame deletions/insertions in repetitive regions not applicable to this substitution variant. Details ▾Hide ▴
No further detail was recorded.
PS5 N/ASynonymous variant produces no amino acid change; PS5 requires the same amino acid change as a previously established pathogenic variant. Details ▾Hide ▴
Evidence considered
- Synonymous variant
- no amino acid change to compare.
Identifiers
- Gene
- RAD51C
- Transcript
- NM_058216.3
- Coding (HGVS c.)
- NM_058216.3:c.141C>T
- Protein (HGVS p.)
- NP_478123.1:p.(Ser47=)
- GRCh38
- chr17:58692784 C>T
- GRCh37
- chr17:56770145 C>T
- ClinVar
- 185138
Gene diagram
Every interpreted variant in RAD51C, mapped onto the exon structure of NM_058216.3. Select a row to find it on the plot.
RAD51CNM_058216.3
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 RAD51C
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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
80 / 1,614,180 alleles
AF 4.96e-05 · 0 homozygotes · FAF 0.000324
gnomAD v2.1
15 / 282,726 alleles
AF 5.31e-05 · 0 homozygotes · FAF 8.51e-05
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 5e-05 · 80 / 1,614,180 alleles · 0 hom · FAF 0.00032
| Middle Eastern5 / 6,062 | 0.00082 |
| South Asian16 / 91,082 | 0.00018 |
| Remaining individuals5 / 62,512 | 8e-05 |
| European (non-Finnish)53 / 1,180,026 | 4.5e-05 |
| African/African American1 / 75,074 | 1.3e-05 |
0 alternate alleles recorded in 5 other groups: Admixed American, European (Finnish), Amish, East Asian, Ashkenazi Jewish.
gnomAD v2.1
AF 5.3e-05 · 15 / 282,726 alleles · 0 hom · FAF 8.5e-05
| South Asian6 / 30,616 | 0.0002 |
| European (non-Finnish)8 / 129,046 | 6.2e-05 |
| African/African American1 / 24,966 | 4e-05 |
0 alternate alleles recorded in 5 other groups: Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 4.95608e-05; MAF= 0.00496%, 80/1614180 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.00082481; MAF= 0.08248%, 5/6062 alleles, homozygotes = 0); grpmax FAF= 0.00032406.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 5.30549e-05; MAF= 0.00531%, 15/282726 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 0.000195976; MAF= 0.01960%, 6/30616 alleles, homozygotes = 0); grpmax FAF= 8.51e-05.
gnomAD-Canada
Not available in gnomAD-Canada v1.0.
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
BP4 SupportingMultiple lines of computational evidence indicate no impact on gene product. SpliceAI predicts no splicing alteration (max delta score 0.03). The variant is synonymous (p.Ser47=) with no predicted effect on protein sequence. REVEL and BayesDel are not available for synonymous variants. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.03: no predicted splicing impact. Synonymous variant with no amino acid change
- consistent with benign computational profile.
Sources
BP7 SupportingSynonymous variant at c.141 (p.Ser47=) in exon 1. SpliceAI predicts no impact on splicing (max delta score 0.03), indicating the variant does not alter the splice consensus sequence or create a cryptic splice site. The variant is at a wobble position and the nucleotide is not evolutionarily constrained in a manner suggesting functional significance. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.03: no predicted donor/acceptor gain or loss. Synonymous substitution at wobble position with no predicted effect on splicing.
Sources
PP3 Computational evidence does not support a deleterious effect. SpliceAI predicts no significant splicing impact (max delta score 0.03). REVEL and BayesDel are not applicable to synonymous variants. The variant is a synonymous change with no predicted functional consequence. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta 0.03: no predicted splicing alteration. REVEL/BayesDel not applicable to synonymous variant.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03).
9 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
-
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.ACMG/AMP standards and guidelines for the interpretation of sequence variants. Provides the generic ACMG/AMP classification framework (Richards et al. 2015). Does not discuss RAD51C or any specific variant; a methodology reference only.Does not name this variant
-
PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.Describes a standardized DNA variant scoring system for pathogenicity assessments in Mendelian disorders. Does not discuss RAD51C or c.141C>T.Does not name this variant
-
PMID 15604628 ↗Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.Trepanier A et al. · 2004National Society of Genetic Counselors practice guideline on genetic cancer risk assessment and counseling. A general clinical practice guideline; does not discuss RAD51C or any specific variant.Does not name this variant
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PMID 23188549 ↗NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.NSGC practice guideline on risk assessment and genetic counseling for hereditary breast and ovarian cancer. A general clinical practice guideline; does not discuss RAD51C or any specific variant.Does not name this variant
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PMID 24493721 ↗American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.ASCO expert statement on collection and use of cancer family history for oncology providers. A general clinical practice statement; does not discuss RAD51C or any specific variant.Does not name this variant
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PMID 25356965 ↗ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.ACMG policy statement on updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. A general policy statement; does not discuss RAD51C or any specific variant.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. A general clinical practice guideline; does not discuss RAD51C or any specific variant.Does not name this variant
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PMID 26057125 ↗Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.Janatova M et al. · 2015Mutation analysis of RAD51C and RAD51D in 171 high-risk BRCA1/BRCA2-negative ovarian cancer patients and 1,226 controls from the Czech Republic. Identified two truncating RAD51C mutations (c.379_380insG, c.1026+5_1026+7delGTA) and two rare missense variants (c.641G>A/p.R214H, c.947A>G/p.H316R). NM_058216.3:c.141C>T was not reported among pathogenic or rare variant findings.Does not name this variant
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Methodology paper describing a refinement of the ACMG/AMP framework; does not discuss RAD51C or c.141C>T.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
80 / 1,614,180 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.030
Open source ↗
ClinVar
12 Likely benign · 1 Benign
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/1535377178
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/185138/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/17-56770145-C-T?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr17-58692784-C-T?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/17-58692784-C-T
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_058216.3%3Ac.141C…
- OncoKB ↗www.oncokb.org/gene/RAD51C/S47=
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=RAD51C+c.141C%3ET
- 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= 4.95608e-05; MAF= 0.00496%, 80/1614180 alleles, homozygotes = 0) and has highest observed frequency in the Middle Eastern population (AF= 0.00082481; MAF= 0.08248%, 5/6062 alleles, homozygotes = 0); grpmax FAF= 0.00032406.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 5.30549e-05; MAF= 0.00531%, 15/282726 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 0.000195976; MAF= 0.01960%, 6/30616 alleles, homozygotes = 0); grpmax FAF= 8.51e-05.
gnomAD-Canada
Not available in gnomAD-Canada v1.0.
ClinVar
This variant has been reported in ClinVar as Likely benign (12 clinical laboratories) and as Benign (1 clinical laboratory). (ClinVarID = 185138)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03).
Functional
OncoKB identified curated literature and non-variant-specific oncogenicity context for review; listed oncogenicity label: Unknown Oncogenic Effect.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.