ATMc.7974T>CLikely benign

Print report

Variant interpretation report

ATM c.7974T>C, p.(Asn2658=)

NM_000051.4:c.7974T>C NP_000042.3:p.(Asn2658=) 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: 2 supporting (benign) · 1 supporting (pathogenic)
Expert rules: ClinGen ATM VCEP v1.5.0
Other laboratories (ClinVar): 4 Likely benign · 1 Benign
Pipeline record: 22 Jun 2026

Evidence considered

View criteria

Applied evidence criteria

PM2 (supporting): This variant is present at very low frequency in gnomAD v4.1 (total AF = 0.00031%, 5/1,611,834 alleles, 0 homozygotes), meeting the VCEP PM2_Supporting threshold of ≤0.001%. Observed predominantly in the East Asian population (sub-population AF = 0.011%). Per VCEP guidance, PM2 is not considered conflicting evidence for variants that otherwise are likely benign/benign.
BP4 (supporting): SpliceAI predicts no splice impact (max delta = 0.0), meeting the VCEP BP4 threshold of SpliceAI ≤0.1 for splicing prediction. Multiple lines of computational evidence (SpliceAI) suggest no impact on splicing. REVEL not available for synonymous variants. Note: BP4 and BP7 both draw from the same underlying observation of absent splice impact; applied together they may overlap.
BP7 (supporting): NM_000051.4:c.7974T>C is a synonymous variant p.(Asn2658=) located in exon 54 (c.7939-c.8077). The variant is 35 nucleotides downstream of the acceptor site and 103 nucleotides upstream of the donor site, placing it well outside the VCEP-defined splice consensus regions (+7 donor, -21 acceptor). SpliceAI predicts no splice impact (max delta = 0.0). VCEP BP7 criteria for synonymous variants are met.

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: 1 Benign evidence criteria: 2

Pathogenic criteria applied · 1

PM2Supporting

PM2 · supporting

This variant is present at very low frequency in gnomAD v4.1 (total AF = 0.00031%, 5/1,611,834 alleles, 0 homozygotes), meeting the VCEP PM2_Supporting threshold of ≤0.001%. Observed predominantly in the East Asian population (sub-population AF = 0.011%). Per VCEP guidance, PM2 is not considered conflicting evidence for variants that otherwise are likely benign/benign.

Benign criteria applied · 2

BP4Supporting

BP4 · supporting

SpliceAI predicts no splice impact (max delta = 0.0), meeting the VCEP BP4 threshold of SpliceAI ≤0.1 for splicing prediction. Multiple lines of computational evidence (SpliceAI) suggest no impact on splicing. REVEL not available for synonymous variants. Note: BP4 and BP7 both draw from the same underlying observation of absent splice impact; applied together they may overlap.

BP7Supporting

BP7 · supporting

NM_000051.4:c.7974T>C is a synonymous variant p.(Asn2658=) located in exon 54 (c.7939-c.8077). The variant is 35 nucleotides downstream of the acceptor site and 103 nucleotides upstream of the donor site, placing it well outside the VCEP-defined splice consensus regions (+7 donor, -21 acceptor). SpliceAI predicts no splice impact (max delta = 0.0). VCEP BP7 criteria for synonymous variants are met.

Recorded classification: Likely benign

Richards et.al., 2015 - Combining rules v1.5.0 criteria-combination framework: matched Rule19 (Benign.Supporting >=2) with applied criteria: PM2 supporting, BP4 supporting, BP7 supporting; 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

5 / 1,611,834 alleles

gnomAD v4.1: 5 / 1,611,834 alleles. Recorded AF 3.10206e-06. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 2.38796e-05; MAF= 0.00239%, 6/251260 alleles, homozygotes = 0) and has highest observed frequency in the East Asian population (AF= 0.000326193; MAF= 0.03262%, 6/18394 alleles, homozygotes = 0); grpmax FAF= 0.00014146.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

Applied · PM2 →

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

5 reported laboratory submissions

4 Likely benign · 1 Benign.

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 v1.5.0, with the data and sources behind each one.

26 criteria with recorded statuses: 3 met · 4 not met · 5 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.7974T>C is a synonymous variant p.(Asn2658=) in ATM exon 54, located well outside the canonical splice consensus regions.

SpliceAI predicts no splice impact (max delta score = 0.00).

This variant is present in gnomAD v4.1 at very low frequency (total AF = 0.00031%, 5/1,611,834 alleles, 0 homozygotes), highest in East Asian population (sub-population AF = 0.011%).

ClinVar reports this variant as Likely benign (4 clinical laboratories) and Benign (1 laboratory); review status: criteria provided, single submitter (ClinVar Variation ID: 414583).

The ClinGen HBOP VCEP supplementary table (PMID:40580951, Table S1) classifies this variant as Likely benign with an eDA score of 3.10e-06.

BP7_Supporting is met: synonymous variant outside donor +7 and acceptor -21 splice regions with no predicted splice impact (SpliceAI = 0.0).

BP4_Supporting is met: no predicted impact via splicing (SpliceAI max delta = 0.0 ≤ 0.1). Note partial overlap with BP7.

PM2_Supporting is met: gnomAD v4.1 total allele frequency (0.00031%) is ≤ 0.001% VCEP threshold. Per VCEP guidance, PM2 is not considered conflicting evidence for variants that otherwise are likely benign/benign.

No pathogenic criteria beyond PM2_Supporting are met. Multiple benign supporting criteria (BP7, BP4) are met with no conflicting pathogenic evidence per VCEP PM2 guidance.

The ClinGen HBOP Expert Panel classification from the VCEP supplementary table is Likely benign, which is concordant with the evidence-based assessment.

Met · 3

PM2 SupportingThis variant is present at very low frequency in gnomAD v4.1 (total AF = 0.00031%, 5/1,611,834 alleles, 0 homozygotes), meeting the VCEP PM2_Supporting threshold of ≤0.001%. Observed predominantly in the East Asian population (sub-population AF = 0.011%). Per VCEP guidance, PM2 is not considered conflicting evidence for variants that otherwise are likely benign/benign. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 total AF = 0.00031% (≤0.001% threshold).
VCEP PM2 is downgraded to Supporting strength only.

Sources

gnomad_v4 ↗cspec ↗

BP4 SupportingSpliceAI predicts no splice impact (max delta = 0.0), meeting the VCEP BP4 threshold of SpliceAI ≤0.1 for splicing prediction. Multiple lines of computational evidence (SpliceAI) suggest no impact on splicing. REVEL not available for synonymous variants. Note: BP4 and BP7 both draw from the same underlying observation of absent splice impact; applied together they may overlap. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.0 (≤ 0.1 BP4 threshold).
No predicted splice impact.

Sources

spliceai ↗cspec ↗

BP7 SupportingNM_000051.4:c.7974T>C is a synonymous variant p.(Asn2658=) located in exon 54 (c.7939-c.8077). The variant is 35 nucleotides downstream of the acceptor site and 103 nucleotides upstream of the donor site, placing it well outside the VCEP-defined splice consensus regions (+7 donor, -21 acceptor). SpliceAI predicts no splice impact (max delta = 0.0). VCEP BP7 criteria for synonymous variants are met. Details ▾Hide ▴

Evidence considered

Synonymous variant outside donor +7 and acceptor -21.
SpliceAI max delta = 0.0 (no predicted splice impact).
VCEP BP7_Supporting criteria satisfied.

Sources

spliceai ↗cspec ↗

Not met · 4 · evaluated, threshold not reached

PP3 SpliceAI predicts no splice impact (max delta = 0.0), failing the VCEP PP3 threshold of SpliceAI ≥0.2 for silent variants. REVEL score is unavailable for synonymous variants. No multiple lines of computational evidence support a deleterious effect. Details ▾Hide ▴

Evidence considered

SpliceAI max delta = 0.0 (< 0.2 PP3 threshold).
REVEL not available for synonymous variants.

Sources

spliceai ↗

PP5 The ClinGen HBOP VCEP supplementary table (PMID:40580951) classifies this variant as Likely benign. ClinVar lists this variant as Likely benign (4 clinical laboratories) and Benign (1 laboratory). No reputable source has reported this variant as pathogenic. PP5 requires a pathogenic assertion from a reputable source. Details ▾Hide ▴

Evidence considered

ClinVar: Likely benign (4 labs)
Benign (1 lab).
VCEP supplementary table classifies as Likely benign.

Sources

clinvar ↗vcep_suppl_tables1_pmid_40580951

BA1 gnomAD v4.1 grpmax filtering AF = 0.00435%, which does not exceed the VCEP BA1 threshold of >0.5%. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 grpmax FAF = 0.00435% (≤ 0.5% BA1 threshold).

Sources

gnomad_v4 ↗cspec ↗

BS1 gnomAD v4.1 grpmax filtering AF = 0.00435%, which does not exceed the VCEP BS1 threshold of >0.05%. Details ▾Hide ▴

Evidence considered

gnomAD v4.1 grpmax FAF = 0.00435% (≤ 0.05% BS1 threshold).

Sources

gnomad_v4 ↗cspec ↗

Not assessed · 5 · no assessment recorded

PS3 No well-established in vitro or in vivo functional studies identified for this variant. The VCEP ATM kinase activity and radiosensitivity assay reference tables do not list c.7974T>C. No variant-specific functional data found in literature. Details ▾Hide ▴

Evidence considered

VCEP functional assay reference tables do not include this variant.

Still missing

No ATM kinase activity assay data.
No ATM radiosensitivity assay data.

Sources

vcep_clingen_hbop_atm_supplementary_tables_1_and_2_v1

PS4 No case-control studies demonstrating statistically significant enrichment of this variant in affected individuals versus controls are available. Literature review identified only general guidelines and review papers, none reporting variant-specific case-control data. Details ▾Hide ▴

Evidence considered

No case-control or cohort enrichment data identified.

Still missing

No case-control OR/RR data.
No proband counting studies.

PP1 No co-segregation data available for this variant. The VCEP restricts PP1 for ATM to AR condition only (segregation in A-T families). No A-T family segregation data identified. Details ▾Hide ▴

Evidence considered

No segregation data in A-T families available.

Still missing

No co-segregation data with A-T phenotype.

BS3 No well-established in vitro or in vivo functional studies demonstrating normal protein function or splicing for this variant. The VCEP ATM kinase activity and radiosensitivity reference tables (clingen_hbop_atm_supplementary_tables_1_and_2_v1.xlsx) do not include c.7974T>C. Details ▾Hide ▴

Evidence considered

VCEP functional assay reference tables do not include this variant.

Still missing

No ATM kinase activity rescue data.
No ATM radiosensitivity rescue data.

Sources

vcep_clingen_hbop_atm_supplementary_tables_1_and_2_v1

BP2 No evidence of this variant observed in trans with a pathogenic ATM variant in unaffected individuals (≥18 years, no A-T). No homozygous unaffected individuals identified. The VCEP BP2 point-based system requires specific proband-level data not available in the evidence sources provided. Details ▾Hide ▴

Evidence considered

No trans or homozygous observations in unaffected individuals.

Still missing

No co-occurrence data with pathogenic ATM variants in trans.
No homozygous unaffected adult observations.

Sources

cspec ↗vcep_atm_pm3_bp2_1_5

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

PVS1 N/ANot a null variant. NM_000051.4:c.7974T>C is a synonymous substitution p.(Asn2658=); PVS1 is restricted to nonsense, frameshift, canonical ±1,2 splice sites, initiation codon, or exon deletion variants per VCEP ATM PVS1 decision tree. Details ▾Hide ▴

Evidence considered

VCEP ATM PVS1 v1.5 restricts application to null variant types.

Sources

vcep_atm_pvs1_1_5

PS1 N/ASynonymous variant p.(Asn2658=) does not alter the amino acid. PS1 requires the same amino acid change as a known pathogenic missense variant. Splice defect has been ruled out (SpliceAI max delta = 0.0). Details ▾Hide ▴

Evidence considered

SpliceAI predicts no splice impact
variant is synonymous.

Sources

vcep_atm_ps1_1_5spliceai ↗

PS2 VCEPVCEP ATM v1.5: 'Do not use for AD or AR disease: Informative de novo occurrences have not yet been observed.' Details ▾Hide ▴

Evidence considered

VCEP explicitly states PS2 is not applicable for ATM.

Sources

cspec ↗

PM1 VCEPVCEP ATM v1.5: 'Do not use: Benign and pathogenic variants are known to occur within the same domains and germline mutational hotspots are not well defined at this time.' Details ▾Hide ▴

Evidence considered

VCEP ATM v1.5 explicitly marks PM1 as not applicable.

Sources

cspec ↗

PM5 N/AVCEP ATM v1.5 PM5 applies only to frameshifting or truncating variants with premature termination codons upstream of p.Arg3047, or to splice variants with NMD-prone PTCs upstream of p.Arg3047. c.7974T>C is a synonymous variant with no PTC. Details ▾Hide ▴

Evidence considered

VCEP restricts PM5 to truncating/frameshift/splice variants upstream of p.Arg3047.
pm5_candidates confirms variant is not eligible for classic missense PM5.

Sources

cspec ↗pm5_candidates

PM6 VCEPVCEP ATM v1.5: 'Do not use for AD or AR disease: 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 explicitly marks PM6 as not applicable for ATM.

Sources

cspec ↗

PP2 VCEPVCEP ATM v1.5: 'Do not use: ATM does not have a defined low rate of missense benign variation.' Additionally, this is a synonymous variant, not missense. Details ▾Hide ▴

Evidence considered

VCEP explicitly marks PP2 as not applicable.

Sources

cspec ↗

PP4 VCEPVCEP ATM v1.5: 'Autosomal Dominant: do not use as breast cancer is a disease with multiple genetic etiology. Autosomal Recessive: do not use as a separate line of evidence. Such evidence is built into the Ataxia Telangiectasia PM3|BP2 table.' Details ▾Hide ▴

Evidence considered

VCEP explicitly marks PP4 as not applicable for ATM.

Sources

cspec ↗

BS2 VCEPVCEP ATM v1.5: 'Do not use: ATM has incomplete penetrance.' Details ▾Hide ▴

Evidence considered

VCEP explicitly marks BS2 as not applicable for ATM.

Sources

cspec ↗

BS4 VCEPVCEP ATM v1.5: lack of co-segregation analysis not applicable. AD condition: co-segregation in low-penetrance genes can lead to false positives. AR condition: informative instances too rare. Details ▾Hide ▴

Evidence considered

VCEP explicitly marks BS4 as not applicable for ATM.

Sources

cspec ↗

BP1 VCEPVCEP ATM v1.5: 'Do not use: Missense pathogenic variants are known for ATM.' Details ▾Hide ▴

Evidence considered

VCEP explicitly marks BP1 as not applicable for ATM.

Sources

cspec ↗

BP5 VCEPVCEP ATM v1.5: 'Do not use: Cases with multiple pathogenic variants have been observed with no noticeable difference in phenotype. ATM has low penetrance and will naturally occur with other pathogenic variants more frequently.' Details ▾Hide ▴

Evidence considered

VCEP explicitly marks BP5 as not applicable for ATM.

Sources

cspec ↗

BP6 VCEPVCEP ATM v1.5: 'Not Applicable for this VCEP' — 'This criterion is not for use as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee.' Details ▾Hide ▴

Evidence considered

VCEP explicitly marks BP6 as not for use.

Sources

cspec ↗

PS5 N/APS5 is not a standard ACMG/AMP criterion. The standard criteria set includes PVS1, PS1-PS4, PM1-PM6, PP1-PP5. There is no PS5 criterion in the ACMG/AMP 2015 framework (PMID:25741868). Details ▾Hide ▴

Evidence considered

PS5 does not exist in the ACMG/AMP 2015 criteria.

Sources

PMID:25741868 ↗

Identifiers

Gene: ATM
Transcript: NM_000051.4
Coding (HGVS c.): NM_000051.4:c.7974T>C
Protein (HGVS p.): NP_000042.3:p.(Asn2658=)
GRCh38: chr11:108333932 T>C
GRCh37: chr11:108204659 T>C
ClinVar: 414583

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

—

Transcript span

—

Strand

—

Variants mapped

—

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 5 / 1,611,834 alleles AF 3.1e-06 · 0 homozygotes · FAF 4.35e-05

gnomAD v2.1 6 / 251,260 alleles AF 2.39e-05 · 0 homozygotes · FAF 0.000141

gnomAD-Canada v1.0 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 3.1e-06 · 5 / 1,611,834 alleles · 0 hom · FAF 4.3e-05

East Asian5 / 44,876

0.00011

0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American, European (non-Finnish).

gnomAD v2.1

AF 2.4e-05 · 6 / 251,260 alleles · 0 hom · FAF 0.00014

East Asian6 / 18,394

0.00033

0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, European (Finnish), European (non-Finnish), Remaining individuals, South Asian.

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 3.10206e-06; MAF= 0.00031%, 5/1611834 alleles, homozygotes = 0) and has highest observed frequency in the East Asian population (AF= 0.000111418; MAF= 0.01114%, 5/44876 alleles, homozygotes = 0); grpmax FAF= 4.346e-05.

gnomAD v2.1

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

SpliceAI and Pangolin

SpliceAI acceptor lossat -163 bp

0.000

SpliceAI acceptor gainat -46 bp

0.000

SpliceAI donor lossat -372 bp

0.000

SpliceAI donor gainat +36 bp

0.000

Pangolin splice lossmagnitude shown

-0.010

Pangolin splice gain

0.030

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

Evidence considered

SpliceAI max delta = 0.0 (≤ 0.1 BP4 threshold).
No predicted splice impact.

Sources

spliceai ↗cspec ↗

Evidence considered

Synonymous variant outside donor +7 and acceptor -21.
SpliceAI max delta = 0.0 (no predicted splice impact).
VCEP BP7_Supporting criteria satisfied.

Sources

spliceai ↗cspec ↗

Evidence considered

SpliceAI max delta = 0.0 (< 0.2 PP3 threshold).
REVEL not available for synonymous variants.

Sources

spliceai ↗

Statement

In silico

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

7 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.

Recorded publications

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.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the ACMG and AMP. This is the foundational ACMG/AMP 2015 guideline paper. NM_000051.4:c.7974T>C was not identified in this paper.
Does not name this variant
PMID 25741868 ↗
PMID 24432435

No paper-specific finding is recorded.

PMID 24432435 ↗
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Versi

Cancer Genetics Risk Assessment and Counseling (PDQ): Health Professional Version. A general cancer genetics review. No variant-specific mention of NM_000051.4:c.7974T>C.
Does not name this variant
PMID 26389258 ↗
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: USPSTF Recommendation Statement. Focuses on BRCA1/2 testing recommendations; no ATM variant-specific data.
Does not name this variant
PMID 31429903 ↗
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing. Policy statement listing genes for secondary findings reporting; no variant-specific data.
Does not name this variant
PMID 35802134 ↗
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Gasser T et al. · 2010

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. General diagnostic guidelines for ataxia disorders; no ATM variant-specific data.
Does not name this variant
PMID 20050888 ↗
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. A classification framework paper; no variant-specific mention of c.7974T>C.
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 5 / 1,611,834 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 4 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

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

Absent from gnomAD-Canada v1.0.

ClinVar

This variant has been reported in ClinVar as Likely benign (4 clinical laboratories) and as Benign (1 clinical laboratory). (ClinVarID = 414583)

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.