NM_000059.4:c.10111A>G

BRCA2 · NP_000050.3:p.(Thr3371Ala) · NM_000059.4

GRCh37: chr13:32972761 A>G · GRCh38: chr13:32398624 A>G

Gene: BRCA2 Transcript: NM_000059.4

Final call

VUS

Variant details

Gene

BRCA2

Transcript

NM_000059.4

Protein

NP_000050.3:p.(Thr3371Ala)

gnomAD AF

1.053228952148711e-05 (v4.1)

ClinVar

Likely benign

OncoKB

Unknown Oncogenic Effect

Classification rationale

Interpretation summary

Generated evidence synthesis

No ENIGMA BRCA1/2 v1.2 criteria-combination rule was satisfied because no criterion was met, and the zero evidence point score falls in the -1 to 5 VUS band, yielding a final classification of Variant of Uncertain Significance.

Final determination: Under the ENIGMA BRCA1/BRCA2 v1.2 Table 3 combination rules, every Pathogenic, Likely Pathogenic, Benign, and Likely Benign combination requires at least one met criterion at a specified strength; none of the adjudicated criteria for c.10111A>G is met (all not_assessed or not_applicable), so the residual classification is Variant of Uncertain Significance.

Criteria assessment

ACMG/AMP criteria review

Criteria shown when status is available

All criteria require review: For research and educational purposes only.

Criterion	Status	Rationale	Evidence used
PVS1	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PS1	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PS2	N/A	Not applicable: the ENIGMA BRCA1/2 v1.2 specification does not use de novo evidence when classifying BRCA2 variants.	cspec PMID:27376475
PS3	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PS4	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PM1	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PM2	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PM3	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PM4	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PM5	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PM6	N/A	Not applicable: the ENIGMA BRCA1/2 v1.2 specification does not use assumed de novo evidence for BRCA2 variants.	cspec PMID:27376475
PP1	Not assessed	Not assessed: no co-segregation data were available; the ENIGMA multifactorial dataset records no segregation likelihood ratio for this variant.	cspec vcep_humu_40_1557_s001
PP2	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PP3	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PP4	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
PP5	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BA1	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BS1	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BS2	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BS3	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BS4	Not assessed	Not assessed: no non-segregation data were available; no segregation likelihood ratio or affected non-carriers are reported for this variant.	cspec vcep_humu_40_1557_s001
BP1	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BP2	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BP3	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BP4	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BP5	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BP6	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.
BP7	Not assessed	Not assessed: insufficient evidence was available to evaluate this criterion.

Disclaimer: The content and results provided by LYFE Sciences are for research and educational purposes only and must not be used as a substitute for professional medical judgment, diagnosis, or treatment. Always consult a qualified healthcare professional before making any clinical decisions.