About BRAF
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRAF c.1929A>G, p.(Gly643=)
Classification
Benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is benign. Select a step to read what it means.
Benign.A 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 BRAF 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: 0
Benign evidence criteria: 4
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 4
BA1Stand alone
BA1 · stand alone
This variant exceeds the RASopathy VCEP BA1 threshold by a large margin. The filtering allele frequency threshold is 0.05%, while the observed allele frequency is 21.18080% in gnomAD v2.1 and 17.82506% in gnomAD v4.1; both values are far above the stand-alone benign threshold.
BS1Strong
BS1 · strong
This variant exceeds the RASopathy VCEP BS1 population threshold. The filtering allele frequency threshold is 0.025%, whereas the observed allele frequency is 21.18080% in gnomAD v2.1 and 17.82506% in gnomAD v4.1, with many homozygotes in both datasets.
BP4Supporting
BP4 · supporting
Computational evidence supports no meaningful molecular effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, and the REVEL score is 0.247, which is below the RASopathy VCEP benign threshold of 0.3.
BP6Supporting
BP6 · supporting
Expert panel ClinGen RASopathy Variant Curation Expert Panel classified as Benign.
Recorded classification: Benign
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRAF Version 2.3.0 v2.3.0 criteria-combination framework: matched Rule17 (1 Benign.Stand Alone) with applied criteria: BP4 supporting, BP6 supporting benign, BS1 strong, BA1 stand-alone benign; maps to 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
287,439 / 1,612,556 alleles
gnomAD v4.1: 287,439 / 1,612,556 alleles. Recorded AF 0.178251. Recorded homozygote count 37917.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.211808; MAF= 21.18080%, 59743/282062 alleles, homozygotes = 10008) and has highest observed frequency in the African/African American population (AF= 0.678583; MAF= 67.85829%, 16894/24896 alleles, homozygotes = 5737); grpmax FAF= 0.669859.
SpliceAI score
0.010 maximum delta
Recorded SpliceAI maximum delta score: 0.010. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
13 reported laboratory submissions
13 Benign.
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
37 recorded samples
This variant has previously been reported in somatic cancers (COSMIC; COSV56058907, n = 37 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen BRAF VCEP v2.3.0, with the data and sources behind each one.
28 criteria with recorded statuses: 4 met · 5 not met · 8 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 BRAF c.1929A>G (p.Gly643=) variant is reported in ClinVar as Benign with expert-panel review.
This variant is common in population databases, with an allele frequency of 21.18080% in gnomAD v2.1 and 17.82506% in gnomAD v4.1, far above the RASopathy VCEP BA1 threshold of 0.05% and BS1 threshold of 0.025%.
Computational evidence does not support a damaging effect, with a REVEL score of 0.247 and SpliceAI predicting no significant splice impact with a maximum delta score of 0.01.
No criteria match.
Met · 4
BA1 Stand aloneThis variant exceeds the RASopathy VCEP BA1 threshold by a large margin. The filtering allele frequency threshold is 0.05%, while the observed allele frequency is 21.18080% in gnomAD v2.1 and 17.82506% in gnomAD v4.1; both values are far above the stand-alone benign threshold. Details ▾Hide ▴
Rule
RASopathy VCEP BA1: gnomAD filtering allele frequency ≥0.05%.
Evidence considered
- gnomAD v2.1 AF 0.211808
- gnomAD v4.1 AF 0.178251
Sources
BS1 StrongThis variant exceeds the RASopathy VCEP BS1 population threshold. The filtering allele frequency threshold is 0.025%, whereas the observed allele frequency is 21.18080% in gnomAD v2.1 and 17.82506% in gnomAD v4.1, with many homozygotes in both datasets. Details ▾Hide ▴
Rule
RASopathy VCEP BS1: gnomAD filtering allele frequency ≥0.025%.
Evidence considered
- gnomAD v2.1 AF 0.211808 with 10
- 008 homozygotes
- gnomAD v4.1 AF 0.178251 with 37
- 917 homozygotes
Sources
BP4 SupportingComputational evidence supports no meaningful molecular effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, and the REVEL score is 0.247, which is below the RASopathy VCEP benign threshold of 0.3. Details ▾Hide ▴
Rule
RASopathy VCEP BP4: for missense variants REVEL ≤0.3; for splicing variants predicted outcome is negligible or does not match disease mechanism.
Evidence considered
- SpliceAI max delta score 0.01
- REVEL score 0.247
Sources
Not met · 5 · evaluated, threshold not reached
PS3 No approved functional study for this exact variant was identified in the available RASopathy VCEP functional materials, so PS3 cannot be assigned. Details ▾Hide ▴
Rule
RASopathy VCEP PS3 requires one approved assay for supporting strength or two or more different approved assays for moderate strength.
Evidence considered
- Reviewed VCEP-approved functional study summary without finding this exact variant
Still missing
- No approved assay result for BRAF c.1929A>G / p.Gly643= was identified.
- No direct functional evidence showing an abnormal effect for this exact variant was identified.
Sources
cspec ↗vcep_svi_rasopathy_vcep_v2_approved_functional_studies
PS4 Available evidence does not support enrichment in affected individuals. No case-control or case-enrichment evidence was identified for this exact variant, and the variant is common in population databases, with allele frequencies of 21.18080% in gnomAD v2.1 and 17.82506% in gnomAD v4.1. Details ▾Hide ▴
Rule
RASopathy VCEP PS4 uses a point-based affected-individual enrichment framework.
Evidence considered
- No case-enrichment evidence identified
- gnomAD v2.1 AF 0.211808
- gnomAD v4.1 AF 0.178251
- ClinVar benign expert-panel classification
Sources
PM1 Available evidence does not support PM1. The RASopathy VCEP restricts PM1 to exon 6, exon 11, the P-loop (amino acids 459-474), or the CR3 activation segment (amino acids 594-627), and p.Gly643= lies outside those specified regions. Cancer Hotspots also did not show this variant in a statistically significant hotspot. Details ▾Hide ▴
Rule
RASopathy VCEP PM1 is limited to exon 6, exon 11, P-loop (AA 459-474), or CR3 activation segment (AA 594-627).
Evidence considered
- Protein consequence p.(Gly643=) at codon 643
- Hotspots review did not identify a statistically significant hotspot
Sources
PM2 PM2 requires absence from gnomAD, but this variant is common in population databases. In gnomAD v2.1 the allele frequency is 21.18080% (59,743/282,062 alleles), and in gnomAD v4.1 the allele frequency is 17.82506% (287,439/1,612,556 alleles), both far above an absence threshold. Details ▾Hide ▴
Rule
RASopathy VCEP PM2 requires the variant to be absent from controls in gnomAD.
Evidence considered
- gnomAD v2.1 AF 0.211808
- gnomAD v4.1 AF 0.178251
Sources
PP3 Computational evidence does not support a deleterious effect. The REVEL score is 0.247, which is below the RASopathy VCEP PP3 threshold of 0.7, and SpliceAI predicts no significant splice impact with a maximum delta score of 0.01. Details ▾Hide ▴
Rule
RASopathy VCEP PP3: REVEL ≥0.7 for missense variants, or predicted splice outcome matching disease mechanism.
Evidence considered
- REVEL score 0.247
- SpliceAI max delta score 0.01
Sources
Not assessed · 8 · no assessment recorded
PS2 No confirmed de novo occurrence with verified maternity and paternity was identified for this variant, so PS2 cannot be assigned from the available evidence. Details ▾Hide ▴
Rule
RASopathy VCEP PS2 uses point-based de novo evidence.
Evidence considered
- Exploratory review found no confirmed de novo evidence for this exact variant
Still missing
- No trio-based case report or curated record documenting a confirmed de novo occurrence was identified.
- No phenotype-rich proband with parental confirmation was identified.
Sources
PM6 No assumed de novo occurrence without parental confirmation was identified for this variant, so PM6 cannot be assigned from the available evidence. Details ▾Hide ▴
Rule
RASopathy VCEP PM6 uses a point-based assumed de novo framework.
Evidence considered
- Exploratory review found no assumed de novo evidence for this exact variant
Still missing
- No publication or curated database record describing this variant as presumed de novo was identified.
- No parental testing information was identified.
Sources
PP1 No segregation data were identified for this variant, so PP1 cannot be assessed from the available evidence. Details ▾Hide ▴
Rule
RASopathy VCEP PP1 uses informative meiosis counts for supporting, moderate, or strong strength.
Evidence considered
- Exploratory review found no segregation evidence
Still missing
- No pedigree with informative meioses was identified.
- No familial co-segregation report was identified for this exact variant.
Sources
BS2 The available materials show this variant is very common in population databases, including many homozygotes, but no explicit BS2 point-based healthy-individual assessment under the RASopathy framework was provided. BS2 was therefore not independently assigned in this pass. Details ▾Hide ▴
Rule
RASopathy VCEP BS2 uses a point-based framework.
Evidence considered
- Very high gnomAD frequency with many homozygotes
Still missing
- No explicit BS2 point calculation was identified.
- No curated healthy-individual evidence source specific to the BS2 framework was identified.
Sources
BS4 No informative family showing lack of segregation was identified for this variant, so BS4 cannot be assigned from the available evidence. Details ▾Hide ▴
Rule
RASopathy VCEP BS4 requires lack of segregation and can be met with one informative meiosis.
Evidence considered
- Exploratory review found no non-segregation data for this exact variant
Still missing
- No pedigree demonstrating non-segregation was identified.
- No informative meiosis for BS4 assessment was identified.
Sources
BP2 No phase data or evidence for an alternative molecular explanation in the same gene were identified, so BP2 cannot be assessed from the available information. Details ▾Hide ▴
Rule
RASopathy VCEP BP2 uses a point-based framework tied to alternative molecular causes and phenotype context.
Evidence considered
- No family or phase observations available
Still missing
- No cis/trans data were identified.
- No point-based BP2 evidence under the RASopathy framework was identified.
Sources
BP5 No evidence was identified for an alternative molecular explanation in a different gene or for a phenotype fully explained by another cause, so BP5 cannot be assessed from the available information. Details ▾Hide ▴
Rule
RASopathy VCEP BP5 uses a point-based framework tied to alternative molecular causes or inconsistent phenotypes.
Evidence considered
- No alternative-cause evidence available
Still missing
- No alternative molecular diagnosis data were identified.
- No RASopathy point-based BP5 evidence was identified.
Sources
BP7 This synonymous variant has no predicted splice effect by SpliceAI, which supports one part of BP7, but no conservation evidence was identified to show that the affected nucleotide is not highly conserved. BP7 therefore remains unconfirmed from the available evidence. Details ▾Hide ▴
Rule
RASopathy VCEP BP7 applies to synonymous or certain non-canonical intronic variants with no predicted splice impact and a nucleotide that is not highly conserved.
Evidence considered
- Synonymous protein consequence p.(Gly643=)
- SpliceAI max delta score 0.01
Still missing
- No nucleotide conservation metric was identified for the altered base.
- BP7 requires both no predicted splice impact and lack of high conservation.
Sources
Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 VCEPPVS1 is not applicable to this variant. It is a synonymous change and does not fall into the null-variant categories used for PVS1 assessment. Details ▾Hide ▴
VCEP rule
PVS1 is not applicable for this VCEP and this variant is not a null-variant type.
Evidence considered
- Protein consequence p.(Gly643=)
- Variant-level PVS1 assessment indicates the variant is outside generic null-variant buckets
Sources
PS1 N/APS1 requires the same amino acid change as an established pathogenic variant. This variant is synonymous and does not change the amino acid, so PS1 does not apply. Details ▾Hide ▴
Rule
RASopathy VCEP PS1 applies to the same pathogenic amino acid change, including analogous positions in BRAF and RAF1.
Evidence considered
- Protein consequence p.(Gly643=)
Sources
PM3 VCEPPM3 is not applicable in this VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable.
Evidence considered
- Criterion designated not applicable by the VCEP
Sources
PM4 N/APM4 applies to in-frame insertions or deletions and stop-loss variants that change protein length. This synonymous variant does not alter protein length, so PM4 does not apply. Details ▾Hide ▴
Rule
RASopathy VCEP PM4 applies to protein length changes due to in-frame indels or stop-loss variants.
Evidence considered
- Protein consequence p.(Gly643=)
Sources
PM5 N/AThis variant is synonymous and does not create an amino acid substitution, so the RASopathy VCEP same-residue missense PM5 rule does not apply. Details ▾Hide ▴
Rule
RASopathy VCEP PM5 applies to same-residue pathogenic missense comparators; this variant is not missense-like.
Evidence considered
- Protein consequence p.(Gly643=)/p.(G643=)
- PM5 candidate review marked the variant as not eligible for classic same-residue missense PM5
Sources
cspec ↗pm5_candidates
PP2 N/APP2 is a missense criterion in this framework. This variant is synonymous, so PP2 does not apply. Details ▾Hide ▴
Rule
RASopathy VCEP PP2 applies to missense variants when the missense z score is >3.09.
Evidence considered
- Protein consequence p.(Gly643=)
Sources
PP4 VCEPPP4 is not applicable in this VCEP framework because phenotype specificity is handled through other criteria. Details ▾Hide ▴
VCEP rule
Not applicable, see PS4.
Evidence considered
- Criterion designated not applicable by the VCEP
Sources
PP5 VCEPPP5 is not used in this VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable for this VCEP.
Evidence considered
- Criterion designated not applicable by the VCEP
Sources
BS3 VCEPBS3 is not used in this VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable for this VCEP.
Evidence considered
- Criterion designated not applicable by the VCEP
Sources
BP1 N/ABP1 in this RASopathy specification is reserved for truncating loss-of-function variants in genes in which gain-of-function missense variants are the primary disease mechanism. This variant is synonymous, so BP1 does not apply. Details ▾Hide ▴
Rule
RASopathy VCEP BP1 is for truncating loss-of-function variants in the specified context.
Evidence considered
- Synonymous protein consequence p.(Gly643=)
Sources
BP3 VCEPBP3 is not applicable in this VCEP framework. Details ▾Hide ▴
VCEP rule
Not applicable.
Evidence considered
- Criterion designated not applicable by the VCEP
Sources
Identifiers
- Gene
- BRAF
- Transcript
- NM_001354609.1
- Coding (HGVS c.)
- NM_001354609.1:c.1929A>G
- Protein (HGVS p.)
- NP_001341538.1:p.(Gly643=)
- GRCh38
- chr7:140749350 T>C
- GRCh37
- chr7:140449150 T>C
- ClinVar
- 1299096, 40391
- COSMIC
- COSV56058907
Gene diagram
Every interpreted variant in BRAF, mapped onto the exon structure of NM_001354609.1. Select a row to find it on the plot.
BRAFNM_001354609.1
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 BRAF
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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
287,439 / 1,612,556 alleles
AF 0.178 · 37917 homozygotes · FAF 0.672
gnomAD v2.1
59,743 / 282,062 alleles
AF 0.212 · 10008 homozygotes · FAF 0.67
By genetic ancestry
gnomAD v4.1
AF 0.18 · 287439 / 1,612,556 alleles · 37917 hom · FAF 0.67
| African/African American50668 / 74,860 | 0.6817235 hom |
| Middle Eastern1836 / 5,786 | 0.32330 hom |
| South Asian28659 / 91,040 | 0.314759 hom |
| Ashkenazi Jewish6216 / 29,556 | 0.21680 hom |
| Remaining individuals12595 / 62,418 | 0.21501 hom |
| East Asian7086 / 44,748 | 0.16620 hom |
| European (Finnish)9213 / 63,930 | 0.14687 hom |
| European (non-Finnish)163217 / 1,179,344 | 0.1411485 hom |
| Admixed American7854 / 59,962 | 0.13618 hom |
| Amish95 / 912 | 0.12 hom |
gnomAD v2.1
AF 0.21 · 59743 / 282,062 alleles · 10008 hom · FAF 0.67
| African/African American16894 / 24,896 | 0.685737 hom |
| South Asian9619 / 30,588 | 0.311619 hom |
| Ashkenazi Jewish2175 / 10,362 | 0.21231 hom |
| East Asian3750 / 19,946 | 0.19370 hom |
| Remaining individuals1318 / 7,198 | 0.18154 hom |
| European (Finnish)3751 / 25,082 | 0.15292 hom |
| European (non-Finnish)18559 / 128,644 | 0.141418 hom |
| Admixed American3677 / 35,346 | 0.1187 hom |
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 0.178251; MAF= 17.82506%, 287439/1612556 alleles, homozygotes = 37917) and has highest observed frequency in the African/African American population (AF= 0.676837; MAF= 67.68368%, 50668/74860 alleles, homozygotes = 17235); grpmax FAF= 0.671898.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.211808; MAF= 21.18080%, 59743/282062 alleles, homozygotes = 10008) and has highest observed frequency in the African/African American population (AF= 0.678583; MAF= 67.85829%, 16894/24896 alleles, homozygotes = 5737); grpmax FAF= 0.669859.
SpliceAI and Pangolin
Other predictors
- REVEL
- 0.247
- BayesDel
- Not available
How the predictions were used
BP4 SupportingComputational evidence supports no meaningful molecular effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.01, and the REVEL score is 0.247, which is below the RASopathy VCEP benign threshold of 0.3. Details ▾Hide ▴
Rule
RASopathy VCEP BP4: for missense variants REVEL ≤0.3; for splicing variants predicted outcome is negligible or does not match disease mechanism.
Evidence considered
- SpliceAI max delta score 0.01
- REVEL score 0.247
Sources
PP3 Computational evidence does not support a deleterious effect. The REVEL score is 0.247, which is below the RASopathy VCEP PP3 threshold of 0.7, and SpliceAI predicts no significant splice impact with a maximum delta score of 0.01. Details ▾Hide ▴
Rule
RASopathy VCEP PP3: REVEL ≥0.7 for missense variants, or predicted splice outcome matching disease mechanism.
Evidence considered
- REVEL score 0.247
- SpliceAI max delta score 0.01
Sources
BP7 This synonymous variant has no predicted splice effect by SpliceAI, which supports one part of BP7, but no conservation evidence was identified to show that the affected nucleotide is not highly conserved. BP7 therefore remains unconfirmed from the available evidence. Details ▾Hide ▴
Rule
RASopathy VCEP BP7 applies to synonymous or certain non-canonical intronic variants with no predicted splice impact and a nucleotide that is not highly conserved.
Evidence considered
- Synonymous protein consequence p.(Gly643=)
- SpliceAI max delta score 0.01
Still missing
- No nucleotide conservation metric was identified for the altered base.
- BP7 requires both no predicted splice impact and lack of high conservation.
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.247.
6 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 24033266 ↗A systematic approach to assessing the clinical significance of genetic variants.Duzkale H et al. · 2013No paper-specific finding is recorded.
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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.Richards S et al. · 2015No paper-specific finding is recorded.
-
PMID 20301303 ↗Noonan Syndrome.Adam MP et al. · 1993No paper-specific finding is recorded.
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PMID 20301557 ↗Noonan Syndrome with Multiple Lentigines.Adam MP et al. · 1993No paper-specific finding is recorded.
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PMID 20876176 ↗Noonan syndrome: clinical features, diagnosis, and management guidelines.Romano AA et al. · 2010No paper-specific finding is recorded.
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
287,439 / 1,612,556 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.010
Open source ↗
ClinVar
13 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/643243119
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/40391/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/7-140449150-T-C?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr7-140749350-T-C?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_001354609.1%3Ac.1…
- OncoKB ↗www.oncokb.org/gene/BRAF/G643=
- COSMIC ↗cancer.sanger.ac.uk/cosmic/mutation/overview?id=189857799
- 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= 0.178251; MAF= 17.82506%, 287439/1612556 alleles, homozygotes = 37917) and has highest observed frequency in the African/African American population (AF= 0.676837; MAF= 67.68368%, 50668/74860 alleles, homozygotes = 17235); grpmax FAF= 0.671898.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 0.211808; MAF= 21.18080%, 59743/282062 alleles, homozygotes = 10008) and has highest observed frequency in the African/African American population (AF= 0.678583; MAF= 67.85829%, 16894/24896 alleles, homozygotes = 5737); grpmax FAF= 0.669859.
ClinVar
This variant has been reported in ClinVar as Benign (13 clinical laboratories) and as Benign by ClinGen RASopathy Variant Curation Expert Panel (expert panel). (ClinVarID = 40391)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.01). REVEL score = 0.247.
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 previously been reported in somatic cancers (COSMIC; COSV56058907, n = 37 times).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.