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BRCA2c.794-2A>GUncertain significance
Print report
Variant interpretation report

BRCA2 c.794-2A>G, p.?

NM_000059.3:c.794-2A>G NP_000050.2:p.? 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 BRCA2

No gene-level summary was recorded for this case.

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: 0
Pathogenic criteria applied · 0

No pathogenic criterion marked as applied in the recorded assessment.

Benign criteria applied · 0

No benign criterion marked as applied in the recorded assessment.

Recorded classification: Uncertain significance

ENIGMA BRCA1/BRCA2 Specification v1.2 final-classification framework (Table 3 adapted ACMG/AMP 2015 criteria-combination rules, as provided in the official CSPEC-derived framework override).

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
1 / 1,597,278 alleles

gnomAD v4.1: 1 / 1,597,278 alleles. Recorded AF 6.26065e-07. Recorded homozygote count 0.

gnomAD v2.1

Absent from gnomAD v2.1.

No listed criterion applied
gnomAD v4.1 ↗gnomAD v2.1 ↗
No screenshot for this evidence
Computational predictions
Not recorded

No SpliceAI or REVEL score is recorded in the fields used for this tile.

No listed criterion applied
ClinVar submissions
Not recorded

A ClinVar laboratory submission summary was not recorded.

Context only 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
Not assessed

No COSMIC evidence statement is recorded in this case.

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: 0 met · 6 not met · 7 not assessed · 15 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic
PVS1PS1PS2PS3PS4PM1PM2PM3PM4PM5PM6PP1PP2PP3PP4PP5
Benign
BA1BS1BS2BS3BS4BP1BP2BP3BP4BP5BP6BP7
Met Not met Not assessed Not applicable

The BRCA2 c.794-2A>G (p.?) variant has been reported in ClinVar, where the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel classifies it as uncertain significance, while other submitters have reported likely pathogenic or pathogenic interpretations.

This variant is absent from gnomAD v2.1 and present once in gnomAD v4.1 at an overall allele frequency of 6.260650932398744e-07 (1/1597278 alleles; 0 homozygotes), indicating that it is very rare in population databases.

In the ENIGMA BRCA2 exon-level splice/PVS1 table, this exact splice acceptor variant is associated with observed in-frame exon 10 skipping and assigned PVS1_N/A (RNA), so current VCEP evidence does not support treating it as a qualifying loss-of-function event under PVS1.

SpliceAI predicts strong splice impact for this variant with a maximum delta score of 0.99 (DS_AL 0.99, DS_AG 0.31), but the BRCA2 ENIGMA framework does not apply PP3 to canonical ±1,2 splice-site variants and this splice prediction should not be double-counted against the variant-specific RNA/PVS1 assessment.

Not met · 6 · evaluated, threshold not reached

PS1 Available evidence does not identify a previously classified pathogenic or likely pathogenic BRCA2 variant with the same demonstrated splice consequence as this variant. The ENIGMA exon table distinguishes c.794-2A>G from nearby donor-site variants with different transcript outcomes, so PS1 is not supported. Details ▾Hide ▴
Rule
ENIGMA PS1 for splice variants requires the same predicted or demonstrated splicing impact as a previously classified pathogenic or likely pathogenic variant.
Evidence considered
  • The ENIGMA table lists a distinct RNA outcome for c.794-2A>G.
  • No exact same-splicing reference pathogenic variant was verified.
Still missing
  • A curated same-splice-outcome comparison set was not identified for this variant.
Sources
vcep_specifications_table4_v1_2_2024_11_18cspec ↗vcep_specifications_v1_2_2024_11_18
PS3 No calibrated functional assay evidence supporting a damaging effect was identified for this variant under the ENIGMA PS3 framework. The available variant-specific RNA evidence is handled through the PVS1 RNA framework rather than PS3, and it does not support PVS1 application here. Details ▾Hide ▴
Rule
ENIGMA PS3 requires well-established damaging functional studies; mRNA-only splice evidence is handled through the RNA/PVS1 framework.
Evidence considered
  • No exact c.794-2A>G entry was found in the curated ENIGMA functional Table 9.
  • Variant-specific RNA evidence was present only in the PVS1 table.
Still missing
  • No direct protein functional study or additional calibrated RNA assay record was identified for this variant.
Sources
vcep_specifications_table4_v1_2_2024_11_18vcep_specifications_table9_v1_2_2024_11_18cspec ↗vcep_specifications_v1_2_2024_11_18
PM2 This variant is absent from gnomAD v2.1 but is present once in gnomAD v4.1 at an overall allele frequency of 6.260650932398744e-07 (1/1597278 alleles; 0 homozygotes). Under the BRCA2 ENIGMA specification, observation of a variant only once in an outbred population is not informative, and a VCEP-qualified PM2_Supporting determination was not established from the available population data. Details ▾Hide ▴
Rule
ENIGMA PM2_Supporting requires absence from controls in qualifying gnomAD datasets; a single outbred observation is not informative.
Evidence considered
  • Absent from gnomAD v2.1.
  • Observed once in gnomAD v4.1.
  • No homozygotes were reported.
Still missing
  • No gnomAD v3.1 non-cancer review with depth confirmation was identified.
Sources
gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18
BA1 The observed population frequency is far below the ENIGMA BA1 threshold. This variant is absent from gnomAD v2.1 and present once in gnomAD v4.1 at an overall allele frequency of 6.260650932398744e-07, which is below the BA1 threshold of 0.001. Details ▾Hide ▴
Rule
ENIGMA BA1 requires filter allele frequency greater than 0.1% (0.001).
Evidence considered
  • gnomAD v4.1 total AF 6.260650932398744e-07.
  • Absent from gnomAD v2.1.
Sources
gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18
BS1 The observed population frequency is far below the ENIGMA BS1 thresholds. This variant is absent from gnomAD v2.1 and present once in gnomAD v4.1 at an overall allele frequency of 6.260650932398744e-07, which is below the supporting threshold of 0.00002 and the strong threshold of 0.0001. Details ▾Hide ▴
Rule
ENIGMA BS1 requires filter allele frequency above 0.00002 for supporting or above 0.0001 for strong evidence.
Evidence considered
  • gnomAD v4.1 total AF 6.260650932398744e-07.
  • Absent from gnomAD v2.1.
Sources
gnomad_v2 ↗gnomad_v4 ↗cspec ↗vcep_specifications_v1_2_2024_11_18
BS3 No well-established functional study showing no damaging effect was identified for this variant. The reviewed curated ENIGMA functional table did not provide a benign functional assignment for c.794-2A>G. Details ▾Hide ▴
Rule
ENIGMA BS3 requires well-established studies showing no damaging effect.
Evidence considered
  • No exact c.794-2A>G benign functional entry was found in ENIGMA Table 9.
Still missing
  • No normal-splicing or normal-function assay record was identified for this variant.
Sources
vcep_specifications_table9_v1_2_2024_11_18cspec ↗vcep_specifications_v1_2_2024_11_18

Not assessed · 7 · no assessment recorded

PS4 No case-control study or quantified enrichment analysis showing that this variant is significantly more common in affected individuals than in controls was identified. Current evidence is insufficient to assess PS4. Details ▾Hide ▴
Rule
ENIGMA PS4 requires a significant increase in prevalence among affected individuals versus controls.
Evidence considered
  • ClinVar shows submissions but not a qualifying PS4 case-control analysis.
  • No exact variant match was verified in the reviewed multifactorial resource for PS4 use.
Still missing
  • No validated affected-versus-control odds ratio or confidence interval was identified for this variant.
Sources
clinvar ↗vcep_humu_40_1557_s001cspec ↗vcep_specifications_v1_2_2024_11_18
PM3 No evidence was identified that this variant was observed in trans with another pathogenic BRCA2 variant in an individual with a phenotype consistent with BRCA2-related Fanconi anemia. PM3 cannot be assessed from the current evidence. Details ▾Hide ▴
Rule
ENIGMA PM3 applies only in the recessive Fanconi anemia context with point-based case evidence.
Evidence considered
  • No Fanconi anemia-specific proband data were identified.
Still missing
  • No phase-confirmed recessive disease observations were identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PP1 No segregation data were identified for this variant, so a quantitative co-segregation likelihood ratio supporting pathogenicity could not be established. Details ▾Hide ▴
Rule
ENIGMA PP1 requires quantitative co-segregation evidence.
Evidence considered
  • No family segregation evidence was identified.
Still missing
  • No pedigree-level segregation report or likelihood ratio was identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PP4 No variant-specific multifactorial clinical-history likelihood ratio meeting ENIGMA PP4 thresholds was identified. The reviewed BRCA2 clinical-history likelihood-ratio workbook did not yield an exact match for c.794-2A>G. Details ▾Hide ▴
Rule
ENIGMA PP4 requires a calibrated multifactorial likelihood ratio of at least 2.08 toward pathogenicity.
Evidence considered
  • No exact c.794-2A>G match was found in the BRCA2 clinical-history LR workbook.
Still missing
  • No exact variant-level clinical-history LR was identified.
Sources
vcep_pmid_31853058_brca2_clinical_history_lrcspec ↗vcep_specifications_v1_2_2024_11_18
BS2 No evidence was identified showing this variant in individuals without features of BRCA2-related Fanconi anemia in a way that would satisfy the ENIGMA BS2 point-based framework. Details ▾Hide ▴
Rule
ENIGMA BS2 requires point-based evidence from individuals lacking the relevant recessive phenotype.
Evidence considered
  • No BS2-specific case evidence was identified.
Still missing
  • No qualifying BS2 proband data were identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BS4 No lack-of-segregation data were identified for this variant, so a quantitative likelihood ratio supporting BS4 could not be established. Details ▾Hide ▴
Rule
ENIGMA BS4 requires quantitative evidence for lack of segregation.
Evidence considered
  • No non-segregation evidence was identified.
Still missing
  • No pedigree-level non-segregation report or likelihood ratio was identified.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP5 No variant-specific multifactorial clinical-history likelihood ratio meeting ENIGMA BP5 thresholds was identified. The reviewed BRCA2 clinical-history likelihood-ratio workbook did not yield an exact match for c.794-2A>G. Details ▾Hide ▴
Rule
ENIGMA BP5 requires a calibrated multifactorial likelihood ratio of 0.48 or less against pathogenicity.
Evidence considered
  • No exact c.794-2A>G match was found in the BRCA2 clinical-history LR workbook.
Still missing
  • No exact variant-level clinical-history LR was identified.
Sources
vcep_pmid_31853058_brca2_clinical_history_lrcspec ↗vcep_specifications_v1_2_2024_11_18
Not applicable · 15· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AThis canonical splice acceptor variant is specifically addressed in the ENIGMA BRCA2 exon-level PVS1 table, where c.794-2A>G is linked to observed in-frame exon 10 skipping and assigned PVS1_N/A (RNA). Although BRCA2 loss of function is an established disease mechanism, the current VCEP variant-specific RNA evidence does not support applying PVS1 to this variant. Details ▾Hide ▴
Rule
ENIGMA BRCA2 Table 4 exact-variant RNA/PVS1 annotation overrides generic canonical-splice default PVS1 use.
Evidence considered
  • BRCA2 is eligible for PVS1 under the ENIGMA/ClinGen framework.
  • The exact c.794-2A>G row in ENIGMA Table 4 is annotated as PVS1_N/A (RNA).
  • The reported RNA consequence is observed in-frame exon 10 skipping.
Still missing
  • Independent review of the underlying RNA study details would further confirm the reported exon 10 transcript outcome.
Sources
vcep_specifications_table4_v1_2_2024_11_18cspec ↗pvs1_gene_contextpvs1_variant_assessmentvcep_specifications_v1_2_2024_11_18
PS2 N/AThis criterion is not used in the BRCA2 ENIGMA specification for this review context, and no confirmed de novo data were identified. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • PS2 is marked not applicable in the BRCA2 specification summary.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PM1 N/APM1 is not applicable in the BRCA2 ENIGMA framework because domain information is incorporated into the bioinformatic rules rather than used as a separate criterion, and this variant is a canonical splice-site change rather than a missense or in-frame variant in a critical protein domain. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks PM1 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PM4 N/APM4 is not applicable in the BRCA2 ENIGMA framework, and this variant is not an in-frame insertion or deletion. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks PM4 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PM5 N/AThe BRCA2 ENIGMA PM5_PTC rule is used for protein-terminating variants that are already annotated as PVS1. Because this variant has a variant-specific ENIGMA assignment of PVS1_N/A (RNA), PM5 is not applicable. Details ▾Hide ▴
Rule
ENIGMA PM5_PTC applies only to eligible PVS1/PTC contexts.
Evidence considered
  • The exact Table 4 row assigns PVS1_N/A (RNA) to c.794-2A>G.
Sources
vcep_specifications_table4_v1_2_2024_11_18cspec ↗vcep_specifications_v1_2_2024_11_18
PM6 N/AThis criterion is not used in the BRCA2 ENIGMA specification for this review context, and no assumed de novo evidence was identified. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • PM6 is marked not applicable in the BRCA2 specification summary.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PP2 N/APP2 is not applicable in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks PP2 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
PP3 N/ASpliceAI predicts a strong splice effect for this variant with a maximum delta score of 0.99 (DS_AL 0.99, DS_AG 0.31). However, the BRCA2 ENIGMA bioinformatic rule does not apply PP3 to canonical ±1,2 splice-site variants, and the generic PVS1 scaffold also cautions against double-counting splice prediction evidence in this setting. Details ▾Hide ▴
Rule
ENIGMA PP3 applies to predicted splicing outside canonical ±1,2 splice sites or to certain exonic variants, not to canonical splice variants like this one.
Evidence considered
  • SpliceAI max delta score 0.99.
  • Variant is at the canonical -2 acceptor position.
Sources
spliceai ↗cspec ↗pvs1_variant_assessmentvcep_specifications_v1_2_2024_11_18
PP5 N/APP5 is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks PP5 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP1 N/ABP1 is intended for silent, missense, or in-frame variants outside clinically important domains without splice impact. This variant is a canonical splice acceptor change, so BP1 does not apply. Details ▾Hide ▴
Rule
ENIGMA BP1 does not apply to canonical splice-site variants.
Evidence considered
  • Variant is intronic at the canonical -2 splice position.
  • SpliceAI predicts splice impact.
Sources
cspec ↗spliceai ↗vcep_specifications_v1_2_2024_11_18
BP2 N/ABP2 is not applicable in the BRCA2 ENIGMA specification for this review context. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks BP2 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP3 N/ABP3 is not applicable in the BRCA2 ENIGMA specification, and this variant is not an in-frame change in a repetitive region. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks BP3 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP4 N/ABP4 is not supported because this variant is at a canonical splice acceptor position and SpliceAI predicts strong splice impact with a maximum delta score of 0.99. The BRCA2 ENIGMA BP4 rule is intended for variants without predicted splice impact and does not fit this variant. Details ▾Hide ▴
Rule
ENIGMA BP4 requires no predicted splice impact, generally SpliceAI 0.1 or less, in eligible non-canonical contexts.
Evidence considered
  • SpliceAI max delta score 0.99.
  • BayesDel score -0.0908914 is not sufficient to override strong splice prediction.
Sources
spliceai ↗bayesdelcspec ↗vcep_specifications_v1_2_2024_11_18
BP6 N/ABP6 is not applicable in the BRCA2 ENIGMA specification. Details ▾Hide ▴
Rule
Not applicable per BRCA2 ENIGMA specification.
Evidence considered
  • The BRCA2 specification marks BP6 as not applicable.
Sources
cspec ↗vcep_specifications_v1_2_2024_11_18
BP7 N/ABP7 does not apply because this variant is a canonical -2 splice acceptor change rather than a synonymous variant or a deep intronic variant outside the conserved splice motif. In addition, SpliceAI predicts strong splice impact with a maximum delta score of 0.99. Details ▾Hide ▴
Rule
ENIGMA BP7 applies to selected synonymous or non-canonical intronic contexts, not canonical splice-site variants like this one.
Evidence considered
  • Variant is at the canonical -2 acceptor position.
  • SpliceAI max delta score 0.99.
Sources
spliceai ↗cspec ↗vcep_specifications_v1_2_2024_11_18

Identifiers

Gene
BRCA2
Transcript
NM_000059.3
Coding (HGVS c.)
NM_000059.3:c.794-2A>G
Protein (HGVS p.)
NP_000050.2:p.?
GRCh38
chr13:32332270 A>G
GRCh37
chr13:32906407 A>G

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…
gnomAD v4.1 1 / 1,597,278 alleles AF 6.26e-07 · 0 homozygotes
gnomAD v2.1 Allele count data not recorded

By genetic ancestry

gnomAD v4.1

AF 6.3e-07 · 1 / 1,597,278 alleles · 0 hom
European (non-Finnish)1 / 1,169,438 8.6e-07
0 alternate alleles recorded in 9 other groups: Remaining individuals, Admixed American, European (Finnish), Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.

Statements

gnomAD v4.1

This variant is present in gnomAD v4.1 (AF= 6.26065e-07; MAF= 0.00006%, 1/1597278 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.55112e-07; MAF= 0.00009%, 1/1169438 alleles, homozygotes = 0).

gnomAD v2.1

Absent from gnomAD v2.1.

Other predictors

REVEL
Not available
BayesDel
Not available

How the predictions were used

PP3 N/ASpliceAI predicts a strong splice effect for this variant with a maximum delta score of 0.99 (DS_AL 0.99, DS_AG 0.31). However, the BRCA2 ENIGMA bioinformatic rule does not apply PP3 to canonical ±1,2 splice-site variants, and the generic PVS1 scaffold also cautions against double-counting splice prediction evidence in this setting. Details ▾Hide ▴
Rule
ENIGMA PP3 applies to predicted splicing outside canonical ±1,2 splice sites or to certain exonic variants, not to canonical splice variants like this one.
Evidence considered
  • SpliceAI max delta score 0.99.
  • Variant is at the canonical -2 acceptor position.
Sources
spliceai ↗cspec ↗pvs1_variant_assessmentvcep_specifications_v1_2_2024_11_18
BP4 N/ABP4 is not supported because this variant is at a canonical splice acceptor position and SpliceAI predicts strong splice impact with a maximum delta score of 0.99. The BRCA2 ENIGMA BP4 rule is intended for variants without predicted splice impact and does not fit this variant. Details ▾Hide ▴
Rule
ENIGMA BP4 requires no predicted splice impact, generally SpliceAI 0.1 or less, in eligible non-canonical contexts.
Evidence considered
  • SpliceAI max delta score 0.99.
  • BayesDel score -0.0908914 is not sufficient to override strong splice prediction.
Sources
spliceai ↗bayesdelcspec ↗vcep_specifications_v1_2_2024_11_18
BP7 N/ABP7 does not apply because this variant is a canonical -2 splice acceptor change rather than a synonymous variant or a deep intronic variant outside the conserved splice motif. In addition, SpliceAI predicts strong splice impact with a maximum delta score of 0.99. Details ▾Hide ▴
Rule
ENIGMA BP7 applies to selected synonymous or non-canonical intronic contexts, not canonical splice-site variants like this one.
Evidence considered
  • Variant is at the canonical -2 acceptor position.
  • SpliceAI max delta score 0.99.
Sources
spliceai ↗cspec ↗vcep_specifications_v1_2_2024_11_18

Statement

In silico

SpliceAI predicts possible splice impact for this variant (max delta score = 0.99). BayesDel score = -0.0908914.

0 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata.

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

gnomAD v4.1 1 / 1,597,278 recorded alleles Open source ↗
gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗
SpliceAI Lookup Captured SpliceAI source record Open source ↗
ClinVar Captured ClinVar source record 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

This variant is present in gnomAD v4.1 (AF= 6.26065e-07; MAF= 0.00006%, 1/1597278 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 8.55112e-07; MAF= 0.00009%, 1/1169438 alleles, homozygotes = 0).

gnomAD v2.1

Absent from gnomAD v2.1.

ClinVar

This variant has been reported in ClinVar as Likely pathogenic (4 clinical laboratories) and as Uncertain significance (2 clinical laboratories) and as Likely Pathogenic (1 clinical laboratory) and as Pathogenic (1 clinical laboratory) and as Uncertain Significance by ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen (expert panel).

In silico

SpliceAI predicts possible splice impact for this variant (max delta score = 0.99). BayesDel score = -0.0908914.

Somatic

This variant has not previously been reported in somatic cancers (COSMIC).