ATMc.103C>ALikely benign

Print report

Variant interpretation report

ATM c.103C>A, p.(Arg35=)

NM_000051.4:c.103C>A NP_000042.3:p.(Arg35=) View identifiers

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.

About ATM

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 strong (benign) · 2 supporting (benign)
Expert rules: ClinGen ATM VCEP v1.5
Other laboratories (ClinVar): 11 Likely benign · 3 Benign
Pipeline record: 7 Aug 2026 · version 7.0.6

Evidence considered

View criteria

Applied evidence criteria

BS1 (strong): VCEP ATM BS1 requires grpmax filtering allele frequency >0.05% in gnomAD v4. Observed grpmax FAF in gnomAD v4.1 is 0.00062571 (0.0626%), exceeding the 0.05% threshold. The variant is present in 78 of 1,613,574 alleles in gnomAD v4.1 with highest subpopulation frequency in African/African American (AF=0.0787%). BS1 is met at Strong strength.
BP4 (supporting): VCEP ATM BP4 for splicing: no predicted impact via splicing (SpliceAI ≤0.1). SpliceAI max delta score is 0.00 for NM_000051.4:c.103C>A, indicating no predicted splicing alteration. The variant is deep within exon 3 (82 bases from donor site, 30 bases from acceptor site). BP4 is met at Supporting strength.
BP7 (supporting): VCEP ATM BP7 applies to synonymous variants located further than +7 from the donor site and further than -21 from the acceptor site. NM_000051.4:c.103C>A is a synonymous variant (p.Arg35=) in exon 3 (c.73-185), positioned 82 bases upstream of the donor site and 30 bases downstream of the acceptor site, well outside the splice consensus regions. SpliceAI delta is 0.00, confirming no predicted splicing impact. BP7 is met at Supporting strength.

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. 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

BS1Strong

BS1 · strong

VCEP ATM BS1 requires grpmax filtering allele frequency >0.05% in gnomAD v4. Observed grpmax FAF in gnomAD v4.1 is 0.00062571 (0.0626%), exceeding the 0.05% threshold. The variant is present in 78 of 1,613,574 alleles in gnomAD v4.1 with highest subpopulation frequency in African/African American (AF=0.0787%). BS1 is met at Strong strength.

BP4Supporting

BP4 · supporting

VCEP ATM BP4 for splicing: no predicted impact via splicing (SpliceAI ≤0.1). SpliceAI max delta score is 0.00 for NM_000051.4:c.103C>A, indicating no predicted splicing alteration. The variant is deep within exon 3 (82 bases from donor site, 30 bases from acceptor site). BP4 is met at Supporting strength.

BP7Supporting

BP7 · supporting

VCEP ATM BP7 applies to synonymous variants located further than +7 from the donor site and further than -21 from the acceptor site. NM_000051.4:c.103C>A is a synonymous variant (p.Arg35=) in exon 3 (c.73-185), positioned 82 bases upstream of the donor site and 30 bases downstream of the acceptor site, well outside the splice consensus regions. SpliceAI delta is 0.00, confirming no predicted splicing impact. BP7 is met at Supporting strength.

Recorded classification: Likely benign

ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.5 v1.5 criteria-combination framework: matched Rule19 (Benign.Supporting >=2) with applied criteria: BS1 strong benign, BP4 supporting benign, BP7 supporting benign; 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

78 / 1,613,574 alleles

gnomAD v4.1: 78 / 1,613,574 alleles. Recorded AF 4.83399e-05. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 9.908e-05; MAF= 0.00991%, 28/282600 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000884671; MAF= 0.08847%, 22/24868 alleles, homozygotes = 0); grpmax FAF= 0.00053895.

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.00016290182450043442, 3/18416 alleles, homozygotes = 0).

Applied · BS1 →

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

SpliceAI score

0.000 maximum delta

Recorded SpliceAI maximum delta score: 0.000. Refer to the recorded PP3/BP4 rationale for interpretation.

Applied · BP4, BP7 → SpliceAI ↗

ClinVar submissions

14 reported laboratory submissions

11 Likely benign · 3 Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.

Context only ClinVar ↗

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

COSMIC ↗Cancer Hotspots ↗

For specialists

Technical detail

ACMG/AMP criteria under ClinGen ATM VCEP v1.5, with the data and sources behind each one.

29 criteria with recorded statuses: 3 met · 8 not met · 0 not assessed · 18 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM3 PM4 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP3 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

NM_000051.4:c.103C>A (p.Arg35=) is a synonymous variant in exon 3 of ATM.

This variant is present in gnomAD v4.1 at an allele frequency of 0.00483% (78/1,613,574 alleles) with a grpmax filtering allele frequency of 0.0626% in the African/African American population, exceeding the VCEP ATM BS1 threshold of >0.05% (BS1_Strong).

SpliceAI predicts no splicing impact (max delta = 0.00), supporting a benign interpretation (BP4_Supporting).

The variant is a synonymous substitution deep within exon 3, located 82 bases from the donor site and 30 bases from the acceptor site, well outside splice consensus regions. No aberrant splicing is predicted (BP7_Supporting).

The VCEP ATM ClinGen HBOP Supplementary Table S1 (PMID 40580951) classifies this variant as Benign/Likely benign based on computational prediction, consistent with the criteria assessment.

Classification: Likely Benign per VCEP ATM Rule 18 (1 Strong benign + ≥1 Supporting benign). BS1_Strong, BP4_Supporting, and BP7_Supporting are met. No pathogenic criteria are met.

Met · 3

BS1 StrongVCEP ATM BS1 requires grpmax filtering allele frequency >0.05% in gnomAD v4. Observed grpmax FAF in gnomAD v4.1 is 0.00062571 (0.0626%), exceeding the 0.05% threshold. The variant is present in 78 of 1,613,574 alleles in gnomAD v4.1 with highest subpopulation frequency in African/African American (AF=0.0787%). BS1 is met at Strong strength. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 grpmax FAF=0.00062571 (0.0626%) exceeds VCEP BS1 threshold of >0.05%. 78/1
613
574 alleles (AF=0.00483%)
homozygotes=0.

Sources

gnomad_v4 ↗cspec ↗vcep_suppl_tables1_pmid_40580951

BP4 SupportingVCEP ATM BP4 for splicing: no predicted impact via splicing (SpliceAI ≤0.1). SpliceAI max delta score is 0.00 for NM_000051.4:c.103C>A, indicating no predicted splicing alteration. The variant is deep within exon 3 (82 bases from donor site, 30 bases from acceptor site). BP4 is met at Supporting strength. Details ▾Hide ▴

Evidence considered

SpliceAI delta=0.00
no predicted splicing impact. Synonymous variant deep in exon 3.

Sources

spliceai ↗cspec ↗

BP7 SupportingVCEP ATM BP7 applies to synonymous variants located further than +7 from the donor site and further than -21 from the acceptor site. NM_000051.4:c.103C>A is a synonymous variant (p.Arg35=) in exon 3 (c.73-185), positioned 82 bases upstream of the donor site and 30 bases downstream of the acceptor site, well outside the splice consensus regions. SpliceAI delta is 0.00, confirming no predicted splicing impact. BP7 is met at Supporting strength. Details ▾Hide ▴

Evidence considered

Synonymous variant in exon 3
c.103
distant from splice sites (+82 from donor
-30 from acceptor). SpliceAI delta=0.00.

Sources

spliceai ↗cspec ↗

Not met · 8 · evaluated, threshold not reached

PS3 No experimental functional studies exist for NM_000051.4:c.103C>A. VCEP ATM PS3 requires functional rescue assay data (failed rescue of ATM-specific feature and/or radiosensitivity), which is absent for this variant. The VCEP Supplementary Table S1 categorizes this variant as 'Functional' based on 'Computational prediction' only, not experimental evidence. Details ▾Hide ▴

Evidence considered

No functional assay data for this variant. Suppl Table S1 marks as Computational prediction only.

Still missing

No functional studies performed on this variant.

Sources

cspec ↗vcep_suppl_tables1_pmid_40580951

PS4 No case-control studies identified for NM_000051.4:c.103C>A. VCEP ATM PS4 requires case-control studies with p-value ≤0.05 and OR/HR/RR ≥2 or lower 95% CI ≥1.5. No such studies were found. Details ▾Hide ▴

Evidence considered

No case-control studies available for this variant.

Still missing

No case-control data.

Sources

cspec ↗

PM2 VCEP ATM PM2 requires gnomAD v4 frequency ≤0.001%. Observed gnomAD v4.1 allele frequency is 4.83×10⁻⁵ (0.00483%; 78/1,613,574 alleles), which exceeds the 0.001% threshold. PM2 is not met. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 AF=4.83e-05 (0.00483%) exceeds VCEP PM2 threshold of ≤0.001%.

Sources

gnomad_v4 ↗cspec ↗

PP1 No segregation data is available for NM_000051.4:c.103C>A. VCEP ATM PP1 requires segregation in affected relatives for autosomal recessive ataxia-telangiectasia. No family studies were identified. Details ▾Hide ▴

Evidence considered

No segregation data available.

Still missing

No family segregation studies.

Sources

cspec ↗

PP3 VCEP ATM PP3 requires REVEL >0.733 for missense variants or SpliceAI ≥0.2 for splicing variants. NM_000051.4:c.103C>A is synonymous: no REVEL score available, and SpliceAI max delta is 0.00. Neither threshold is met. Details ▾Hide ▴

Evidence considered

SpliceAI delta=0.00 (below 0.2 threshold)
no REVEL score (synonymous variant).

Sources

spliceai ↗cspec ↗vcep_suppl_tables1_pmid_40580951

BA1 VCEP ATM BA1 requires grpmax filtering allele frequency >0.5% in gnomAD v4. Observed grpmax FAF in gnomAD v4.1 is 0.00062571 (0.0626%), well below the 0.5% threshold. BA1 is not met. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 grpmax FAF=0.00062571 (0.0626%) below BA1 threshold of >0.5%.

Sources

gnomad_v4 ↗cspec ↗

BS3 No experimental functional data demonstrating rescue of ATM-specific features or radiosensitivity exists for NM_000051.4:c.103C>A. VCEP ATM BS3 requires functional rescue assays. The VCEP Supplementary Table S1 classifies this variant as 'Functional' based on 'Computational prediction' only, which does not constitute experimental rescue evidence. Details ▾Hide ▴

Evidence considered

No functional rescue assay data. Suppl Table S1 'Computational prediction' only.

Still missing

No experimental functional rescue studies.

Sources

cspec ↗vcep_suppl_tables1_pmid_40580951

BP2 No evidence of co-occurrence in trans with a pathogenic variant in ATM. VCEP ATM BP2 requires observation of the variant in trans with a pathogenic/likely pathogenic variant in unaffected (non-A-T) individuals, with point-based scoring per the PM3/BP2 table. No such data is available. Details ▾Hide ▴

Evidence considered

No co-occurrence in trans data available.

Still missing

No trans co-occurrence studies.

Sources

cspec ↗vcep_atm_pm3_bp2_1_5

Not applicable · 18· recorded as not applicable Show reasons ▾Hide reasons ▴

PVS1 N/ASynonymous variant (p.Arg35=) does not fall into PVS1 null-variant buckets (nonsense, frameshift, canonical ±1,2 splice sites, initiation codon, or exon deletion). VCEP ATM PVS1 decision tree does not apply. Details ▾Hide ▴

Evidence considered

Synonymous substitution in exon 3
no null-variant mechanism.

Sources

pvs1_variant_assessmentpvs1_gene_contextcspec ↗

PS1 N/AVCEP ATM PS1 applies to missense changes with splicing ruled out, or splicing variants with comparable predictions. NM_000051.4:c.103C>A is a synonymous variant (p.Arg35=) with no amino acid change; no comparator missense or splicing variant to evaluate. Details ▾Hide ▴

Evidence considered

Synonymous variant
no amino acid change
PS1 not applicable.

Sources

cspec ↗vcep_atm_ps1_1_5

PS2 VCEPVCEP ATM marks PS2 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

PM1 VCEPVCEP ATM marks PM1 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

PM3 N/ASkipped per instruction: not in assess list for this case. Details ▾Hide ▴

No further detail was recorded.

PM4 N/ASkipped per instruction: non-repeat indels and stop-loss only. Details ▾Hide ▴

No further detail was recorded.

PM5 N/AVCEP ATM PM5 applies only to frameshifting or truncating variants with premature termination codons upstream of p.Arg3047, and to splice variants with NMD-prone PTCs where PVS1_VS(RNA) is applied. NM_000051.4:c.103C>A is a synonymous variant and does not meet these criteria. Details ▾Hide ▴

Evidence considered

Synonymous variant
not frameshifting
truncating
or splicing
PM5 not applicable.

Sources

cspec ↗pm5_candidates

PM6 VCEPVCEP ATM marks PM6 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

PP2 VCEPVCEP ATM marks PP2 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

PP4 VCEPVCEP ATM marks PP4 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

PP5 VCEPVCEP ATM marks PP5 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

BS2 VCEPVCEP ATM marks BS2 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

BS4 VCEPVCEP ATM marks BS4 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

BP1 VCEPVCEP ATM marks BP1 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

BP3 VCEPSkipped per instruction: in-frame indels only; substitution variant. Details ▾Hide ▴

No further detail was recorded.

BP5 VCEPVCEP ATM marks BP5 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

BP6 VCEPVCEP ATM marks BP6 as Not Applicable. Details ▾Hide ▴

Evidence considered

VCEP Not Applicable designation.

Sources

cspec ↗

PS5 N/APS5 is not defined in the VCEP ATM framework. No applicable VCEP rule exists for this criterion. Details ▾Hide ▴

Evidence considered

Not in VCEP ATM criteria set.

Sources

cspec ↗

Identifiers

Gene: ATM
Transcript: NM_000051.4
Coding (HGVS c.): NM_000051.4:c.103C>A
Protein (HGVS p.): NP_000042.3:p.(Arg35=)
GRCh38: chr11:108227806 C>A
GRCh37: chr11:108098533 C>A
ClinVar: 183805

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 78 / 1,613,574 alleles AF 4.83e-05 · 0 homozygotes · FAF 0.000626

gnomAD v2.1 28 / 282,600 alleles AF 9.91e-05 · 0 homozygotes · FAF 0.000539

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 4.8e-05 · 78 / 1,613,574 alleles · 0 hom · FAF 0.00063

African/African American59 / 74,976	0.00079
Admixed American10 / 59,996	0.00017
Remaining individuals5 / 62,478	8e-05
European (non-Finnish)4 / 1,179,806	3.4e-06

0 alternate alleles recorded in 6 other groups: European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish.

gnomAD v2.1

AF 9.9e-05 · 28 / 282,600 alleles · 0 hom · FAF 0.00054

African/African American22 / 24,868	0.00088
Admixed American5 / 35,424	0.00014
Remaining individuals1 / 7,206	0.00014

0 alternate alleles recorded in 5 other groups: Ashkenazi Jewish, East Asian, European (Finnish), European (non-Finnish), South Asian.

gnomAD-Canada

AF not recorded · ? / ? alleles

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 4.83399e-05; MAF= 0.00483%, 78/1613574 alleles, homozygotes = 0) and has highest observed frequency in the African/African American population (AF= 0.000786918; MAF= 0.07869%, 59/74976 alleles, homozygotes = 0); grpmax FAF= 0.00062571.

gnomAD v2.1

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.00016290182450043442, 3/18416 alleles, homozygotes = 0).

Open the gnomAD-Canada detail page →

SpliceAI and Pangolin

Pangolin splice lossmagnitude shown

-0.010

Pangolin splice gain

0.070

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

Evidence considered

SpliceAI delta=0.00
no predicted splicing impact. Synonymous variant deep in exon 3.

Sources

spliceai ↗cspec ↗

Evidence considered

Synonymous variant in exon 3
c.103
distant from splice sites (+82 from donor
-30 from acceptor). SpliceAI delta=0.00.

Sources

spliceai ↗cspec ↗

Evidence considered

SpliceAI delta=0.00 (below 0.2 threshold)
no REVEL score (synonymous variant).

Sources

spliceai ↗cspec ↗vcep_suppl_tables1_pmid_40580951

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).

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

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

Bernstein JL et al. · 2010

Studied ATM variants in relation to radiation exposure and contralateral breast cancer risk. NM_000051.4:c.103C>A was not identified in the abstract.
Does not name this variant
PMID 20305132 ↗
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.

Examined tamoxifen and contralateral breast cancer risk in BRCA1/BRCA2 mutation carriers. NM_000051.4:c.103C>A was not identified in the abstract.
Does not name this variant
PMID 23918944 ↗
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. · 2015

ACMG/AMP standards and guidelines for the interpretation of sequence variants. General framework document; NM_000051.4:c.103C>A was not mentioned in this paper.
Does not name this variant
PMID 25741868 ↗
ATM gene alterations in childhood acute lymphoblastic leukemias.

Gumy Pause F et al. · 2003

Investigated ATM gene alterations in childhood acute lymphoblastic leukemias. NM_000051.4:c.103C>A was not identified in this paper.
Does not name this variant
PMID 12673804 ↗
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

National Society of Genetic Counselors practice guidelines for hereditary breast and ovarian cancer risk assessment and genetic counseling. NM_000051.4:c.103C>A was not identified in the abstract.
Does not name this variant
PMID 17508274 ↗
The emerging landscape of breast cancer susceptibility.

Stratton MR et al. · 2008

Review of breast cancer susceptibility genes and their clinical implications. NM_000051.4:c.103C>A was not identified in the abstract.
Does not name this variant
PMID 18163131 ↗
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.

Adam MP et al. · 1993

GeneReviews entry for BRCA1- and BRCA2-associated hereditary breast and ovarian cancer. NM_000051.4:c.103C>A was not identified.
Does not name this variant
PMID 20301425 ↗
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. NM_000051.4:c.103C>A was not identified.
Does not name this variant
PMID 24493721 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Sherloc comprehensive refinement of ACMG-AMP variant classification criteria. NM_000051.4:c.103C>A was not identified.
Does not name this variant
PMID 28492532 ↗

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

gnomAD v4.1 78 / 1,613,574 recorded alleles Open source ↗

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

SpliceAI Lookup Recorded maximum delta 0.000 Open source ↗

ClinVar 11 Likely benign · 3 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

gnomAD-Canada

This variant is present in gnomAD-Canada v1.0 (AF= 0.00016290182450043442, 3/18416 alleles, homozygotes = 0).

ClinVar

This variant has been reported in ClinVar as Likely benign (11 clinical laboratories) and as Benign (3 clinical laboratories). (ClinVarID = 183805)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.00).

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.