BRCA2c.68-7delBenign

Print report

Variant interpretation report

BRCA2 c.68-7del, p.?

NM_000059.3:c.68-7del NP_000050.2:p.? View identifiers

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.

About BRCA2

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 stand alone (benign) · 1 strong (benign) · 2 supporting (benign)
Expert rules: ClinGen BRCA2 VCEP v1.2.0
Other laboratories (ClinVar): 5 Benign · 3 Uncertain significance
Pipeline record: 19 May 2026

Evidence considered

View criteria

Applied evidence criteria

BA1 (stand alone): This variant is too common for a pathogenic BRCA2 variant under the ENIGMA frequency framework. In gnomAD v2.1, the grpmax filter allele frequency is 0.00155833, which is above the BA1 threshold of 0.001 in a non-founder population.
BS1 (strong): This variant exceeds the BRCA2 BS1 frequency threshold. In gnomAD v2.1, the grpmax filter allele frequency is 0.00155833, which is above the BS1 strong threshold of 0.0001.
BP4 (supporting): This intronic variant is outside the native donor and acceptor +/-1,2 splice sites, and SpliceAI predicts no significant splice effect with a maximum delta score of 0.04, which is below the BRCA2 BP4 threshold of 0.1. This supports BP4.
BP6 (supporting): Expert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Benign.

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 BRCA2 VCEP v1.2.0. 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 is too common for a pathogenic BRCA2 variant under the ENIGMA frequency framework. In gnomAD v2.1, the grpmax filter allele frequency is 0.00155833, which is above the BA1 threshold of 0.001 in a non-founder population.

BS1Strong

BS1 · strong

This variant exceeds the BRCA2 BS1 frequency threshold. In gnomAD v2.1, the grpmax filter allele frequency is 0.00155833, which is above the BS1 strong threshold of 0.0001.

BP4Supporting

BP4 · supporting

This intronic variant is outside the native donor and acceptor +/-1,2 splice sites, and SpliceAI predicts no significant splice effect with a maximum delta score of 0.04, which is below the BRCA2 BP4 threshold of 0.1. This supports BP4.

BP6Supporting

BP6 · supporting

Expert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Benign.

Recorded classification: Benign

ENIGMA BRCA1 and BRCA2 Specification v1.2 Table 3 final-classification framework (CSPEC/VCEP criteria-combination rules).

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

409 / 1,562,996 alleles

gnomAD v4.1: 409 / 1,562,996 alleles. Recorded AF 0.000261677. Recorded homozygote count 0.

gnomAD v2.1

This variant is present in gnomAD v2.1 (AF= 0.000846545; MAF= 0.08465%, 198/233892 alleles, homozygotes = 0) and has highest observed frequency in the South Asian population (AF= 0.00201734; MAF= 0.20173%, 47/23298 alleles, homozygotes = 0); grpmax FAF= 0.00155833.

Applied · BA1, BS1 →

gnomAD v4.1 ↗gnomAD v2.1 ↗

SpliceAI score

0.040 maximum delta

Recorded SpliceAI maximum delta score: 0.040. Refer to the recorded PP3/BP4 rationale for interpretation.

Applied · BP4 → SpliceAI ↗

ClinVar submissions

8 reported laboratory submissions

5 Benign · 3 Uncertain significance.

Applied · BP6 → ClinVar ↗

No screenshot for this evidence

Functional evidence

Not recorded

No standalone functional evidence summary is recorded in evidence_summary.functional.

No listed criterion applied OncoKB ↗

Somatic evidence

8 recorded samples

This variant has previously been reported in somatic cancers (COSMIC; COSV66448762, n = 8 times).

Context only COSMIC ↗

For specialists

Technical detail

ACMG/AMP criteria under ClinGen BRCA2 VCEP v1.2.0, with the data and sources behind each one.

28 criteria with recorded statuses: 4 met · 3 not met · 10 not assessed · 11 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

Benign

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

Met Not met Not assessed Not applicable

The BRCA2 c.68-7del (p.?) variant has been reported in ClinVar and is classified as Benign by the ClinGen ENIGMA BRCA1 and BRCA2 expert panel, although some ClinVar submissions remain uncertain significance.

This variant is present in gnomAD, and in gnomAD v2.1 the grpmax filter allele frequency is 0.00155833, which is above the ENIGMA BRCA2 BA1 threshold of 0.001 and the BS1 strong threshold of 0.0001.

Computational splicing evidence does not support a deleterious effect because SpliceAI predicts a maximum delta score of 0.04, which is below the BRCA2 BP4 threshold of 0.1 and below the PP3 threshold of 0.2.

Met · 4

BA1 Stand aloneThis variant is too common for a pathogenic BRCA2 variant under the ENIGMA frequency framework. In gnomAD v2.1, the grpmax filter allele frequency is 0.00155833, which is above the BA1 threshold of 0.001 in a non-founder population. Details ▾Hide ▴

Rule

Apply BA1 when non-founder population FAF is >0.1%.

Evidence considered

gnomAD v2.1 grpmax FAF = 0.00155833.
BA1 threshold in BRCA2 ENIGMA specification is FAF >0.001.

Sources

gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18

BS1 StrongThis variant exceeds the BRCA2 BS1 frequency threshold. In gnomAD v2.1, the grpmax filter allele frequency is 0.00155833, which is above the BS1 strong threshold of 0.0001. Details ▾Hide ▴

Rule

Apply BS1_Strong when non-founder population FAF is >0.01%.

Evidence considered

gnomAD v2.1 grpmax FAF = 0.00155833.
BS1 strong threshold in BRCA2 ENIGMA specification is FAF >0.0001.

Sources

gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18

BP4 SupportingThis intronic variant is outside the native donor and acceptor +/-1,2 splice sites, and SpliceAI predicts no significant splice effect with a maximum delta score of 0.04, which is below the BRCA2 BP4 threshold of 0.1. This supports BP4. Details ▾Hide ▴

Rule

Apply BP4_Supporting for noncanonical intronic variants with no predicted splice impact.

Evidence considered

Intronic variant at c.68-7 is outside the canonical +/-1
2 splice positions.
SpliceAI max delta score = 0.04.
BRCA2 BP4 threshold is SpliceAI <=0.1 for qualifying intronic variants.

Sources

spliceai ↗cspec ↗vcep_specifications_v1_2_2024_11_18

BP6 SupportingExpert panel ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen classified as Benign. Details ▾Hide ▴

Rule

Criterion not used by this VCEP.

Evidence considered

BP6 is marked not applicable in the BRCA2 specification.
ClinVar expert panel classification

Sources

cspec ↗clinvar ↗vcep_specifications_v1_2_2024_11_18

Not met · 3 · evaluated, threshold not reached

PVS1 BRCA2 loss of function is an established disease mechanism in this framework, but this intronic c.68-7del variant is not a canonical +/-1,2 splice-site change and no RNA study showing an abnormal transcript was identified. Available evidence therefore does not support applying PVS1. Details ▾Hide ▴

Rule

ENIGMA BRCA2 PVS1 applies to null variants or qualifying RNA evidence; this variant does not currently meet those conditions.

Evidence considered

BRCA2 is PVS1-eligible in the ENIGMA framework.
c.68-7del is outside the default generic null-variant buckets.
No variant-specific damaging RNA evidence was identified.

Still missing

Variant-specific RNA data demonstrating a damaging splicing effect would be needed for PVS1(RNA) consideration.

Sources

cspec ↗pvs1_gene_contextpvs1_variant_assessmentvcep_specifications_v1_2_2024_11_18

PM2 This variant is present in population databases and therefore is not absent from controls. In addition, the BRCA2 specification states that PM2_Supporting should not be applied for insertion, deletion, or delins variants. Details ▾Hide ▴

Rule

PM2_Supporting requires absence from controls and is not applied to indels in this specification.

Evidence considered

gnomAD v2.1 total AF 0.000846545.
gnomAD v4.1 total AF 0.000261677.
ENIGMA BRCA2 PM2_Supporting is not applied to indels.

Sources

cspec ↗gnomad_v2 ↗gnomad_v4 ↗vcep_specifications_v1_2_2024_11_18

PP3 SpliceAI predicts no significant splice impact for this intronic variant, with a maximum delta score of 0.04, which is below the BRCA2 PP3 threshold of 0.2. Available computational evidence therefore does not support PP3. Details ▾Hide ▴

Rule

PP3 for noncanonical intronic variants requires predicted splicing impact meeting the VCEP threshold.

Evidence considered

SpliceAI max delta score = 0.04.
BRCA2 PP3 splicing threshold is SpliceAI >=0.2.

Sources

spliceai ↗cspec ↗vcep_specifications_v1_2_2024_11_18

Not assessed · 10 · no assessment recorded

PS1 PS1 can be used for intronic or exonic variants with the same predicted splicing effect as a previously classified pathogenic or likely pathogenic variant, but no verified comparator with the same predicted splice outcome was identified here. Details ▾Hide ▴

Rule

Splicing-based PS1 requires a qualifying previously classified comparator with the same predicted splice event.

Evidence considered

ENIGMA permits PS1 for matched predicted splicing events.

Still missing

A validated pathogenic or likely pathogenic splice comparator with the same predicted event would be required.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PS3 No published functional study showing a damaging effect for BRCA2 c.68-7del was identified, and this variant was not found in the curated ENIGMA functional assay table reviewed for PS3/BS3 use. Details ▾Hide ▴

Rule

PS3 requires well-established functional evidence supportive of a damaging effect.

Evidence considered

No c.68-7del entry was found in the curated ENIGMA functional assay table.
No exact damaging functional study was identified in the reviewed materials.

Still missing

Variant-specific calibrated functional or RNA evidence showing a damaging effect would be needed.

Sources

vcep_specifications_table9_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18

PS4 No case-control or quantitative prevalence data showing a significant enrichment of this variant in affected individuals versus controls were identified, so PS4 is not established. Details ▾Hide ▴

Rule

PS4 requires significant enrichment in affected individuals compared with controls.

Evidence considered

No qualifying PS4 case-control evidence was identified for this variant.

Still missing

Variant-specific case-control or other ENIGMA-accepted prevalence evidence would be needed.

Sources

cspec ↗vcep_supplementarytables_v1_2_2024_11_18vcep_humu_40_1557_s001vcep_specifications_v1_2_2024_11_18

PM3 No evidence was identified that this variant was observed in trans with another BRCA2 pathogenic or likely pathogenic variant in an individual with BRCA2-related Fanconi anemia, so PM3 cannot be applied. Details ▾Hide ▴

Rule

PM3 in this VCEP is reserved for BRCA2-related Fanconi anemia contexts with point-based scoring.

Evidence considered

No qualifying Fanconi anemia-related trans observations were identified.

Still missing

Documented trans observations in individuals meeting BRCA2-related Fanconi anemia criteria would be needed.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PP1 No quantitative cosegregation data were identified for this variant, so PP1 cannot be applied. Details ▾Hide ▴

Rule

PP1 requires quantitative cosegregation evidence meeting ENIGMA likelihood-ratio thresholds.

Evidence considered

No segregation likelihood ratio was identified.

Still missing

Pedigree-based quantitative cosegregation data would be needed.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PP4 No exact variant-level clinical-history likelihood ratio was identified for BRCA2 c.68-7del in the reviewed ENIGMA clinical-history materials, so PP4 was not established. Details ▾Hide ▴

Rule

PP4 in this VCEP uses calibrated multifactorial clinical data with LR >=2.08 for supporting evidence.

Evidence considered

No exact c.68-7del match was found in the BRCA2 clinical-history LR workbook.

Still missing

An exact variant-level LR from accepted multifactorial clinical-history data would be needed.

Sources

cspec ↗vcep_pmid_31853058_brca2_clinical_history_lrPMID:31853058 ↗

BS2 No point-based evidence from individuals lacking features of BRCA2-related Fanconi anemia was identified to support BS2 under the BRCA2 specification. Details ▾Hide ▴

Rule

BS2 in this VCEP requires scored observations in the absence of recessive disease features.

Evidence considered

No ENIGMA BS2 point-based evidence was identified.

Still missing

Qualifying BS2 point-based observations would be needed.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

BS3 No calibrated functional study showing no damaging effect for BRCA2 c.68-7del was identified, and this variant was not found in the curated ENIGMA functional assay table for BS3 use. Details ▾Hide ▴

Rule

BS3 requires well-established functional evidence supportive of no damaging effect.

Evidence considered

No c.68-7del entry was found in the curated ENIGMA functional assay table.
No exact benign functional study was identified in the reviewed materials.

Still missing

Variant-specific functional or RNA evidence showing no damaging effect would be needed.

Sources

vcep_specifications_table9_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18

BS4 No quantitative nonsegregation data were identified for this variant, so BS4 cannot be applied. Details ▾Hide ▴

Rule

BS4 requires quantitative nonsegregation evidence meeting ENIGMA likelihood-ratio thresholds.

Evidence considered

No BS4 segregation likelihood ratio was identified.

Still missing

A quantitative segregation likelihood ratio showing lack of segregation would be needed.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

BP5 No exact variant-level clinical-history likelihood ratio was identified for BRCA2 c.68-7del in the reviewed ENIGMA clinical-history materials, so BP5 was not established. Details ▾Hide ▴

Rule

BP5 in this VCEP uses calibrated multifactorial clinical data with LR <=0.48 for supporting benign evidence.

Evidence considered

No exact c.68-7del match was found in the BRCA2 clinical-history LR workbook.

Still missing

An exact variant-level LR <=0.48 from accepted multifactorial clinical-history data would be needed.

Sources

cspec ↗vcep_pmid_31853058_brca2_clinical_history_lrPMID:31853058 ↗

Not applicable · 11· recorded as not applicable Show reasons ▾Hide reasons ▴

PS2 VCEPThis VCEP does not use PS2 for BRCA2 variant interpretation. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

PS2 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PM1 VCEPPM1 is not used as an independent criterion in this BRCA2 specification and is instead considered within the bioinformatic framework for other codes. Details ▾Hide ▴

VCEP rule

Criterion not used independently by this VCEP.

Evidence considered

PM1 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PM4 VCEPPM4 is not used by this BRCA2 VCEP. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

PM4 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PM5 N/AIn this BRCA2 specification, PM5 is repurposed for protein-truncating variant logic rather than classic same-residue missense comparison. This intronic c.68-7del variant is not a protein-truncating variant, so PM5 is not applicable. Details ▾Hide ▴

Rule

ENIGMA BRCA2 uses PM5 for PTC logic, not classic missense same-residue logic, in this context.

Evidence considered

PM5 candidates artifact indicates ptc_gene_specific mode.
c.68-7del is not a truncating variant.

Sources

cspec ↗pm5_candidatesvcep_specifications_table4_v1_2_2024_11_18

PM6 VCEPThis VCEP does not use PM6 for BRCA2 variant interpretation. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

PM6 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PP2 VCEPPP2 is not used by this BRCA2 VCEP. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

PP2 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

PP5 VCEPPP5 is not used by this VCEP. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

PP5 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

BP1 N/ABP1 in this BRCA2 specification applies to silent, missense, or in-frame coding variants outside clinically important domains with no predicted splice impact. This intronic deletion does not fit that variant class. Details ▾Hide ▴

Rule

Criterion not applicable to this intronic deletion.

Evidence considered

BP1 is restricted to selected coding variant classes.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

BP2 VCEPBP2 is not used by this BRCA2 VCEP. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

BP2 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

BP3 VCEPBP3 is not used by this BRCA2 VCEP. Details ▾Hide ▴

VCEP rule

Criterion not used by this VCEP.

Evidence considered

BP3 is marked not applicable in the BRCA2 specification.

Sources

cspec ↗vcep_specifications_v1_2_2024_11_18

BP7 N/AFor intronic variants, BP7 in this BRCA2 specification is limited to positions at or beyond +7 or -21 when BP4 is met, or to RNA studies showing no damaging transcript effect. This c.68-7del variant is at position -7 and no benign RNA study was identified. Details ▾Hide ▴

Rule

Criterion not applicable to this intronic position without qualifying RNA data.

Evidence considered

Variant position is c.68-7.
BRCA2 intronic BP7 positional gate is at or beyond +7/-21.
No benign RNA study was identified.

Sources

cspec ↗spliceai ↗vcep_specifications_v1_2_2024_11_18

Identifiers

Gene: BRCA2
Transcript: NM_000059.3
Coding (HGVS c.): NM_000059.3:c.68-7del
Protein (HGVS p.): NP_000050.2:p.?
GRCh38: chr13:32319060 AT>A
GRCh37: chr13:32893197 AT>A
ClinVar: 52188
COSMIC: COSV66448762

Gene diagram

Every interpreted variant in BRCA2, mapped onto the exon structure of NM_000059.3. Select a row to find it on the plot.

BRCA2NM_000059.3

Fetching transcript structure from UCSC…

Exons

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Transcript span

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Strand

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Variants mapped

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Source

UCSC ncbiRefSeqCurated

All variants in BRCA2 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 409 / 1,562,996 alleles AF 0.000262 · 0 homozygotes · FAF 0.000555

gnomAD v2.1 198 / 233,892 alleles AF 0.000847 · 0 homozygotes · FAF 0.00156

By genetic ancestry

gnomAD v4.1

AF 0.00026 · 409 / 1,562,996 alleles · 0 hom · FAF 0.00056

Admixed American42 / 57,460	0.00073
South Asian52 / 87,242	0.0006
Remaining individuals15 / 60,324	0.00025
European (Finnish)15 / 61,188	0.00025
European (non-Finnish)266 / 1,144,988	0.00023
Ashkenazi Jewish6 / 28,514	0.00021
Middle Eastern1 / 5,534	0.00018
African/African American11 / 73,298	0.00015
East Asian1 / 43,540	2.3e-05

0 alternate alleles recorded in 1 other group: Amish.

gnomAD v2.1

AF 0.00085 · 198 / 233,892 alleles · 0 hom · FAF 0.0016

South Asian47 / 23,298	0.002
Admixed American30 / 27,606	0.0011
Remaining individuals6 / 5,910	0.001
Ashkenazi Jewish8 / 8,418	0.00095
European (non-Finnish)76 / 108,796	0.0007
East Asian11 / 16,654	0.00066
African/African American12 / 21,740	0.00055
European (Finnish)8 / 21,470	0.00037

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 0.000261677; MAF= 0.02617%, 409/1562996 alleles, homozygotes = 0) and has highest observed frequency in the Admixed American population (AF= 0.000730943; MAF= 0.07309%, 42/57460 alleles, homozygotes = 0); grpmax FAF= 0.00055521.

gnomAD v2.1

SpliceAI and Pangolin

SpliceAI acceptor lossat +17 bp

0.040

SpliceAI acceptor gainat +23 bp

0.000

SpliceAI donor lossat +265 bp

0.020

SpliceAI donor gainat -306 bp

0.000

Pangolin splice lossmagnitude shown

-0.050

Pangolin splice gain

0.010

Other predictors

REVEL: Not available
BayesDel: Not available

How the predictions were used

Rule

Apply BP4_Supporting for noncanonical intronic variants with no predicted splice impact.

Evidence considered

Intronic variant at c.68-7 is outside the canonical +/-1
2 splice positions.
SpliceAI max delta score = 0.04.
BRCA2 BP4 threshold is SpliceAI <=0.1 for qualifying intronic variants.

Sources

spliceai ↗cspec ↗vcep_specifications_v1_2_2024_11_18

Rule

PP3 for noncanonical intronic variants requires predicted splicing impact meeting the VCEP threshold.

Evidence considered

SpliceAI max delta score = 0.04.
BRCA2 PP3 splicing threshold is SpliceAI >=0.2.

Sources

spliceai ↗cspec ↗vcep_specifications_v1_2_2024_11_18

Rule

Criterion not applicable to this intronic position without qualifying RNA data.

Evidence considered

Variant position is c.68-7.
BRCA2 intronic BP7 positional gate is at or beyond +7/-21.
No benign RNA study was identified.

Sources

cspec ↗spliceai ↗vcep_specifications_v1_2_2024_11_18

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.04).

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

A somatic BRCA2 mutation in RER+ endometrial carcinomas that specifically deletes the amino-terminal transactivation domain.

Koul A et al. · 1999

No paper-specific finding is recorded.

PMID 10451700 ↗
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.

No paper-specific finding is recorded.

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.

No paper-specific finding is recorded.

PMID 25741868 ↗
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

No paper-specific finding is recorded.

PMID 12692171 ↗
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

No paper-specific finding is recorded.

PMID 15604628 ↗
BRCA1 and BRCA2 status in a Central Sudanese series of breast cancer patients: interactions with genetic, ethnic and reproductive factors.

Awadelkarim KD et al. · 2007

No paper-specific finding is recorded.

PMID 17333343 ↗
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

Saslow D et al. · 2007

No paper-specific finding is recorded.

PMID 17392385 ↗
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

No paper-specific finding is recorded.

PMID 17508274 ↗
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 v4.1 409 / 1,562,996 recorded alleles Open source ↗

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

SpliceAI Lookup Recorded maximum delta 0.040 Open source ↗

ClinVar 5 Benign · 3 Uncertain significance Open source ↗

COSMIC Captured COSMIC 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 Benign (5 clinical laboratories) and as Uncertain significance (3 clinical laboratories) and as Benign by ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen (expert panel). (ClinVarID = 52188)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.04).

Somatic

This variant has previously been reported in somatic cancers (COSMIC; COSV66448762, n = 8 times).