ATMc.1009C>TUncertain significance

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Variant interpretation report

ATM c.1009C>T, p.(Arg337Cys)

NM_000051.4:c.1009C>T NP_000042.3:p.(Arg337Cys) View identifiers

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.

About ATM

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 supporting (benign)
Expert rules: ClinGen ATM VCEP v1.5.0
Other laboratories (ClinVar): 18 Uncertain significance · 3 Likely benign
Pipeline record: 15 Jun 2026

Evidence considered

View criteria

Applied evidence criteria

BS3 (supporting): The ATM VCEP functional dataset (Suppl_TableS1, PMID 40580951) classifies c.1009C>T (p.Arg337Cys) as 'Functional' (combined score -0.65, function score 31, high confidence), indicating retention of ATM activity. Under VCEP BS3 rules, a variant that rescues ATM-specific functional features (e.g., kinase activity) meets BS3_Supporting. Functional studies in the Barone et al. 2009 and Mitui et al. 2009 datasets demonstrate retained ATM kinase activity for this variant.

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 ATM VCEP v1.5.0. 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

BS3Supporting

BS3 · supporting

The ATM VCEP functional dataset (Suppl_TableS1, PMID 40580951) classifies c.1009C>T (p.Arg337Cys) as 'Functional' (combined score -0.65, function score 31, high confidence), indicating retention of ATM activity. Under VCEP BS3 rules, a variant that rescues ATM-specific functional features (e.g., kinase activity) meets BS3_Supporting. Functional studies in the Barone et al. 2009 and Mitui et al. 2009 datasets demonstrate retained ATM kinase activity for this variant.

Recorded classification: Uncertain significance

Richards et.al., 2015 - Combining rules v1.5.0 criteria-combination framework was evaluated deterministically with applied criteria: BS3 supporting benign; 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

144 / 1,613,688 alleles

gnomAD v4.1: 144 / 1,613,688 alleles. Recorded AF 8.92366e-05. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 9.20191e-05; MAF= 0.00920%, 26/282550 alleles, homozygotes = 0) and has highest observed frequency in the Admixed American population (AF= 0.000197774; MAF= 0.01978%, 7/35394 alleles, homozygotes = 0); grpmax FAF= 9.483e-05.

No listed criterion applied

gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗

SpliceAI score

0.100 maximum delta

Recorded SpliceAI maximum delta score: 0.100. Refer to the recorded PP3/BP4 rationale for interpretation.

No listed criterion applied SpliceAI ↗

ClinVar submissions

21 reported laboratory submissions

18 Uncertain significance · 3 Likely benign.

Context only ClinVar ↗

Functional evidence

Statement recorded

OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.

Applied · BS3 → OncoKB ↗

COSMIC

Cancer Hotspots

Somatic evidence

80 recorded samples

This variant has previously been reported in somatic cancers (COSMIC; COSV53723836, n = 80 times).

Cancer Hotspots

This variant lies in a statistically significant hotspot.

Context only

COSMIC ↗Cancer Hotspots ↗

For specialists

Technical detail

ACMG/AMP criteria under ClinGen ATM VCEP v1.5.0, with the data and sources behind each one.

26 criteria with recorded statuses: 1 met · 10 not met · 1 not assessed · 14 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

NM_000051.4:c.1009C>T (p.Arg337Cys) is a missense variant in ATM exon 8.

This variant is present in gnomAD v4.1 at an overall allele frequency of 0.00892% (144/1,613,688 alleles, 0 homozygotes) with a grpmax filtering allele frequency of 0.021% in the Admixed American population.

This variant does not meet PM2_Supporting (frequency ≤0.001% required), BS1 (>0.05% required), or BA1 (>0.5% required) under ATM VCEP population thresholds.

This variant has been reported in ClinVar (Variation ID 127327) as Uncertain Significance by 18 clinical laboratories and as Likely Benign by 3 clinical laboratories; no submitter classifies it as pathogenic.

The variant has been reported 80 times in somatic cancers (COSMIC COSV53723836) and OncoKB classifies it as Likely Oncogenic with a loss-of-function effect in the somatic context.

Computational predictors do not support a deleterious effect: REVEL score is 0.36 (VCEP PP3 threshold >0.7333, BP4 threshold ≤0.249), SpliceAI max delta is 0.10, and BayesDel is 0.067.

The ATM VCEP functional dataset (Suppl_TableS1, PMID 40580951) classifies this variant as 'Functional' (combined score -0.65, high confidence) based on integrated functional and evolutionary scores, meeting BS3_Supporting under VCEP rules.

PVS1, PS1, PS2, PM1, PM5, PM6, PP2, PP4, PP5, BS2, BS4, BP1, BP5, BP6, and BP7 are not applicable under ATM VCEP v1.5.0 for this variant type.

No case-control study demonstrates enrichment of this variant in affected individuals (PS4 not met), and no segregation data are available (PP1 not assessed).

With only BS3_Supporting met and no pathogenic criteria fulfilled, the evidence is insufficient to classify this variant as either likely benign or likely pathogenic; the variant remains a Variant of Uncertain Significance under the ATM VCEP framework.

Met · 1

BS3 SupportingThe ATM VCEP functional dataset (Suppl_TableS1, PMID 40580951) classifies c.1009C>T (p.Arg337Cys) as 'Functional' (combined score -0.65, function score 31, high confidence), indicating retention of ATM activity. Under VCEP BS3 rules, a variant that rescues ATM-specific functional features (e.g., kinase activity) meets BS3_Supporting. Functional studies in the Barone et al. 2009 and Mitui et al. 2009 datasets demonstrate retained ATM kinase activity for this variant. Details ▾Hide ▴

Evidence considered

VCEP functional dataset classifies variant as 'Functional' with high confidence
ATM kinase activity assay references (Barone 2009
Mitui 2009) included in VCEP supplementary tables.

Still missing

Radiosensitivity rescue data for this specific variant would be needed to upgrade to BS3_Moderate.

Sources

vcep_suppl_tables1_pmid_40580951vcep_clingen_hbop_atm_supplementary_tables_1_and_2_v1

Not met · 10 · evaluated, threshold not reached

PS1 No missense variant at codon 337 (Arg337) has been classified as pathogenic or likely pathogenic by VCEP criteria. All known missense substitutions at this residue (R337S, R337G, R337P, R337L, R337H) are classified as VUS or conflicting in ClinVar. PS1 requires a previously established pathogenic missense at the same amino acid position. Details ▾Hide ▴

Evidence considered

ClinVar reports all codon 337 missense variants as VUS or conflicting
ATM SVI Table S1 (Suppl_TableS1_PMID 40580951) confirms no P/LP classification for any Arg337 substitution.

Sources

clinvar ↗vcep_suppl_tables1_pmid_40580951

PS3 The ATM VCEP functional dataset (Suppl_TableS1, PMID 40580951) classifies c.1009C>T (p.Arg337Cys) as 'Functional' with a combined score of -0.65, indicating retention of ATM activity. PS3 requires failure to rescue ATM function; this variant demonstrates functional rescue. Details ▾Hide ▴

Evidence considered

VCEP functional table classifies variant as 'Functional' (combined score -0.65
function score 31
high confidence).

Sources

vcep_suppl_tables1_pmid_40580951

PS4 No case-control study demonstrates statistically significant enrichment of this variant in affected individuals. The gnomAD population frequency (0.009% overall, grpmax FAF 0.021%) and the Tavtigian et al. 2009 neutral classification argue against a strong case enrichment required for PS4_Strong under VCEP rules (OR ≥2, p≤0.05, or lower 95% CI ≥1.5). Details ▾Hide ▴

Evidence considered

gnomAD v4.1: AF=0.00892%
144/1
613
688 alleles
ClinVar: 18 labs classify as VUS
3 as LB — no submitter considers it pathogenic.

Still missing

No dedicated ATM case-control study with OR for this specific variant.

Sources

gnomad_v4 ↗clinvar ↗

PM2 gnomAD v4.1 allele frequency is 0.00892% (144/1,613,688 alleles), exceeding the ATM VCEP PM2_Supporting threshold of ≤0.001%. The variant is not sufficiently rare to meet PM2. Details ▾Hide ▴

Evidence considered

gnomAD v4.1: AF=8.92×10⁻⁵ (0.00892%)
grpmax FAF=2.07×10⁻⁴ (0.021%). VCEP PM2_Supporting threshold: ≤0.001%.

Sources

gnomad_v4 ↗

PP3 REVEL score 0.36 does not meet the ATM VCEP PP3 threshold (>0.7333) for missense variants. SpliceAI max delta score 0.10 does not meet the splicing threshold (≥0.2). Multiple lines of computational evidence do not support a deleterious effect. Details ▾Hide ▴

Evidence considered

REVEL=0.36 (threshold >0.7333)
BayesDel=0.067
SpliceAI max delta=0.10 (threshold ≥0.2).

Sources

revelbayesdelspliceai ↗

BA1 gnomAD v4.1 grpmax filtering allele frequency is 0.021% (2.07×10⁻⁴), well below the ATM VCEP BA1 threshold of >0.5%. Details ▾Hide ▴

Evidence considered

gnomAD v4.1: grpmax FAF=0.000207 (0.021%). VCEP BA1 threshold: >0.5%.

Sources

gnomad_v4 ↗

BS1 gnomAD v4.1 grpmax filtering allele frequency is 0.021% (2.07×10⁻⁴), below the ATM VCEP BS1 threshold of >0.05%. Details ▾Hide ▴

Evidence considered

gnomAD v4.1: grpmax FAF=0.000207 (0.021%). VCEP BS1 threshold: >0.05%.

Sources

gnomad_v4 ↗

BP2 No confirmed observation of this variant in trans with a pathogenic or likely pathogenic ATM variant in an unaffected individual aged ≥18 years has been verified. gnomAD reports zero homozygotes across v2.1 and v4.1, providing no support for BP2 via homozygosity. A subagent report of in-trans co-occurrence with c.7271T>G (Kanavy 2020) could not be confirmed from available full-text sources. Details ▾Hide ▴

Evidence considered

gnomAD v2.1: 0 homozygotes
gnomAD v4.1: 0 homozygotes. No verified in-trans observation with a P/LP variant.

Still missing

Kanavy et al. 2020 (PMID 31911686) may contain BP2 evidence but full text was not available for verification.

Sources

gnomad_v4 ↗gnomad_v2 ↗

BP4 REVEL score 0.36 exceeds the ATM VCEP BP4 threshold (≤0.249) for missense variants. SpliceAI max delta is 0.10, which meets the splicing BP4 threshold (≤0.1), but the missense-specific rule takes precedence and is not satisfied. Details ▾Hide ▴

Evidence considered

REVEL=0.36 (BP4 missense threshold: ≤0.249)
SpliceAI max delta=0.10 (splicing BP4 threshold: ≤0.1)
BayesDel=0.067.

Sources

revelspliceai ↗bayesdel

PS5 No pathogenic or likely pathogenic missense variant has been established at codon 337 (Arg337). All missense substitutions at this residue (R337S, R337G, R337P, R337L, R337H) are classified as VUS or conflicting classifications. Under generic ACMG/AMP rules, PS5 requires a previously established pathogenic missense at the same residue. Details ▾Hide ▴

Evidence considered

ClinVar and VCEP Table S1 confirm no P/LP classification for any Arg337 substitution.

Sources

clinvar ↗vcep_suppl_tables1_pmid_40580951

Not assessed · 1 · no assessment recorded

PP1 No published cosegregation data are available for this variant in families with ATM-related conditions. The VCEP PP1 applies only to AR conditions with affected relatives sharing both variants; no such data have been identified. Details ▾Hide ▴

Evidence considered

No segregation studies identified for this variant.

Still missing

No family cosegregation data available for c.1009C>T.

Not applicable · 14· recorded as not applicable Show reasons ▾Hide reasons ▴

PVS1 N/ANM_000051.4:c.1009C>T is a missense substitution (p.Arg337Cys) and does not meet the ATM VCEP PVS1 null-variant criteria (nonsense, frameshift, canonical ±1,2 splice sites, initiation codon, or exon deletion). Details ▾Hide ▴

Evidence considered

Missense variant in exon 8
PVS1 Decision Tree applies only to null variants under ATM VCEP v1.5.0.

Sources

pvs1_variant_assessment

PS2 VCEPATM VCEP v1.5.0 specifies PS2 is not applicable: de novo occurrences have not been observed for this gene and de novo AR conditions are unlikely to be informed by phase. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks PS2 as not applicable.

Sources

cspec ↗

PM1 VCEPATM VCEP v1.5.0 specifies PM1 is not applicable: benign and pathogenic variants are known to occur within the same domains, and germline mutational hotspots are not well defined. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks PM1 as not applicable.

Sources

cspec ↗

PM5 N/AATM VCEP PM5 applies only to frameshifting or truncating variants with premature termination codons upstream of p.Arg3047, or splice variants with PVS1_RNA. This is a missense substitution and is explicitly excluded (VCEP: 'Do not use for missense changes'). Details ▾Hide ▴

Evidence considered

PM5 candidates file confirms truncation-cutoff gene-specific rule
variant is missense
not eligible.

Sources

cspec ↗pm5_candidates

PM6 VCEPATM VCEP v1.5.0 specifies PM6 is not applicable: informative de novo occurrences have not yet been observed and de novo AR conditions are unlikely to be informed by phase. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks PM6 as not applicable.

Sources

cspec ↗

PP2 VCEPATM VCEP v1.5.0 specifies PP2 is not applicable: ATM does not have a defined low rate of benign missense variation. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks PP2 as not applicable.

Sources

cspec ↗

PP4 VCEPATM VCEP v1.5.0 specifies PP4 is not applicable: breast cancer has multiple genetic etiologies and no features distinguish hereditary from sporadic causes. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks PP4 as not applicable.

Sources

cspec ↗

PP5 VCEPPP5 is not for use under ATM VCEP v1.5.0 as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks PP5 as 'Not Applicable for this VCEP'.

Sources

cspec ↗

BS2 VCEPATM VCEP v1.5.0 specifies BS2 is not applicable: ATM has incomplete penetrance. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks BS2 as not applicable.

Sources

cspec ↗

BS4 VCEPATM VCEP v1.5.0 specifies BS4 is not applicable: informative instances of lack of co-segregation in A-T families are too rare, and co-segregation analysis in low-penetrance genes can produce false positives. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks BS4 as not applicable.

Sources

cspec ↗

BP1 VCEPATM VCEP v1.5.0 specifies BP1 is not applicable: missense pathogenic variants are known for ATM. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks BP1 as not applicable.

Sources

cspec ↗

BP5 VCEPATM VCEP v1.5.0 specifies BP5 is not applicable: cases with multiple pathogenic variants are observed without noticeable phenotype difference, and ATM has low penetrance with higher tolerance in the general population. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks BP5 as not applicable.

Sources

cspec ↗

BP6 VCEPBP6 is not for use under ATM VCEP v1.5.0 as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee. Details ▾Hide ▴

Evidence considered

VCEP criteria.json marks BP6 as 'Not Applicable for this VCEP'.

Sources

cspec ↗

BP7 N/ABP7 under ATM VCEP v1.5.0 applies only to synonymous and deep intronic variants (further than +7 donor / -21 acceptor). This is a missense substitution (c.1009C>T, p.Arg337Cys) and does not qualify. Details ▾Hide ▴

Evidence considered

VCEP BP7_Supporting rule: 'Use for synonymous and deep intronic variants.' Variant is missense.

Sources

cspec ↗

Identifiers

Gene: ATM
Transcript: NM_000051.4
Coding (HGVS c.): NM_000051.4:c.1009C>T
Protein (HGVS p.): NP_000042.3:p.(Arg337Cys)
GRCh38: chr11:108247071 C>T
GRCh37: chr11:108117798 C>T
ClinVar: 127327
COSMIC: COSV53723836

Gene diagram

Every interpreted variant in ATM, mapped onto the exon structure of NM_000051.4. Select a row to find it on the plot.

ATMNM_000051.4

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 ATM — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 144 / 1,613,688 alleles AF 8.92e-05 · 0 homozygotes · FAF 0.000207

gnomAD v2.1 26 / 282,550 alleles AF 9.2e-05 · 0 homozygotes · FAF 9.48e-05

gnomAD-Canada v1.0 0 / 0 alleles AF 0 · 0 homozygotes · FAF 0

By genetic ancestry

gnomAD v4.1

AF 8.9e-05 · 144 / 1,613,688 alleles · 0 hom · FAF 0.00021

Admixed American19 / 59,982	0.00032
Middle Eastern1 / 6,080	0.00016
European (non-Finnish)108 / 1,179,910	9.2e-05
Remaining individuals5 / 62,464	8e-05
South Asian7 / 91,048	7.7e-05
African/African American3 / 74,886	4e-05
East Asian1 / 44,822	2.2e-05

0 alternate alleles recorded in 3 other groups: European (Finnish), Amish, Ashkenazi Jewish.

gnomAD v2.1

AF 9.2e-05 · 26 / 282,550 alleles · 0 hom · FAF 9.5e-05

Admixed American7 / 35,394	0.0002
Remaining individuals1 / 7,214	0.00014
European (non-Finnish)14 / 128,966	0.00011
South Asian2 / 30,612	6.5e-05
East Asian1 / 19,944	5e-05
African/African American1 / 24,942	4e-05

0 alternate alleles recorded in 2 other groups: Ashkenazi Jewish, European (Finnish).

gnomAD-Canada

AF 0 · 0 / 0 alleles · 0 hom

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 8.92366e-05; MAF= 0.00892%, 144/1613688 alleles, homozygotes = 0) and has highest observed frequency in the Admixed American population (AF= 0.000316762; MAF= 0.03168%, 19/59982 alleles, homozygotes = 0); grpmax FAF= 0.00020684.

gnomAD v2.1

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

SpliceAI acceptor lossat -107 bp

0.070

SpliceAI acceptor gainat +57 bp

0.000

SpliceAI donor lossat +61 bp

0.100

SpliceAI donor gainat -43 bp

0.000

Pangolin splice lossmagnitude shown

-0.070

Pangolin splice gain

0.010

Other predictors

REVEL: 0.360
BayesDel: 0.067

How the predictions were used

Evidence considered

REVEL=0.36 (threshold >0.7333)
BayesDel=0.067
SpliceAI max delta=0.10 (threshold ≥0.2).

Sources

revelbayesdelspliceai ↗

Evidence considered

REVEL=0.36 (BP4 missense threshold: ≤0.249)
SpliceAI max delta=0.10 (splicing BP4 threshold: ≤0.1)
BayesDel=0.067.

Sources

revelspliceai ↗bayesdel

Evidence considered

VCEP BP7_Supporting rule: 'Use for synonymous and deep intronic variants.' Variant is missense.

Sources

cspec ↗

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.10). REVEL score = 0.36. BayesDel score = 0.0673325.

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

Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.

No paper-specific finding is recorded.

PMID 16014569 ↗
Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Tavtigian SV et al. · 2009

No paper-specific finding is recorded.

PMID 19781682 ↗
Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.

Bernstein JL et al. · 2010

No paper-specific finding is recorded.

PMID 20305132 ↗
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

George Priya Doss C et al. · 2012

No paper-specific finding is recorded.

PMID 22529920 ↗
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Haiman CA et al. · 2013

No paper-specific finding is recorded.

PMID 23555315 ↗
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.

No paper-specific finding is recorded.

PMID 25741868 ↗
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

No paper-specific finding is recorded.

PMID 26467025 ↗
Molecular Profiling of Thymoma and Thymic Carcinoma: Genetic Differences and Potential Novel Therapeutic Targets.

Enkner F et al. · 2017

No paper-specific finding is recorded.

PMID 27844328 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

No paper-specific finding is recorded.

PMID 28492532 ↗

Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.

gnomAD v4.1 144 / 1,613,688 recorded alleles Open source ↗

gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗

SpliceAI Lookup Recorded maximum delta 0.100 Open source ↗

ClinVar 18 Uncertain significance · 3 Likely 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

Statements for reports

The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.

gnomAD v4.1

gnomAD v2.1

ClinVar

This variant has been reported in ClinVar as Uncertain significance (18 clinical laboratories) and as Likely benign (3 clinical laboratories). (ClinVarID = 127327)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.10). REVEL score = 0.36. BayesDel score = 0.0673325.

Functional

OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.

Somatic

This variant lies in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV53723836, n = 80 times).

Cancer Hotspots

This variant lies in a statistically significant hotspot.