About BRCA2
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA2 c.7977-15T>G, p.?
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.
Words with a dotted underline have a short definition. Hover or tap them.
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: 1
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 1
BP4Supporting
BP4 · supporting
Intronic variant at c.7977-15, outside the native acceptor splice site +/-1,2 positions. SpliceAI max delta score = 0.03 (<= 0.1), predicting no significant splicing impact. Meets ENIGMA BP4_Supporting criteria for intronic variants outside canonical splice sites with no predicted splicing effect.
Recorded classification: Uncertain significance
Only BP4_Supporting is met (SpliceAI max delta 0.03, intronic variant outside +/-1,2 acceptor splice consensus predicts no splicing impact). Under ENIGMA Table 3 combining rules, a single Supporting_benign criterion does not reach the threshold for Likely Benign (requires either 2+ Supporting_benign, or 1 Strong_benign + 1 Supporting_benign, or 1 Moderate_benign + 1 Supporting_benign). Under the ENIGMA point system for conflicting evidence, BP4_Supporting = -1 falls in the VUS range (-1 to 5). No pathogenic criteria are met.
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
2 / 1,604,172 alleles
gnomAD v4.1: 2 / 1,604,172 alleles. Recorded AF 1.24675e-06. Recorded homozygote count 0.
gnomAD v2.1
Absent from gnomAD v2.1.
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
No listed criterion applied
SpliceAI score
0.030 maximum delta
Recorded SpliceAI maximum delta score: 0.030. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
7 reported laboratory submissions
4 Likely benign · 2 Uncertain significance · 1 Likely Benign. ClinVar API review status: criteria provided, multiple submitters, no conflicts.
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
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
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.
29 criteria with recorded statuses: 1 met · 12 not met · 2 not assessed · 14 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
NM_000059.4:c.7977-15T>G is an intronic substitution located 15 bases upstream of BRCA2 exon 18, outside the canonical acceptor splice site consensus (+/-1,2). SpliceAI predicts no significant impact on splicing (max delta = 0.03), supporting a benign bioinformatic assessment under ENIGMA BP4_Supporting.
This variant is extremely rare in population databases, present in 2 of 1,604,172 alleles in gnomAD v4.1 (AF = 1.25e-06), both in the European non-Finnish population. It is absent from gnomAD v2.1. The FAF of 2.8e-07 does not meet ENIGMA BS1 thresholds for benign population evidence, nor does it meet BA1 stand-alone benign criteria.
In a multifactorial likelihood analysis by Parsons et al. 2019 (PMID:31131967), this variant had a combined likelihood ratio of 1.11 (co-occurrence LR = 1.02; family history LR = 1.08), which falls within the neutral zone and does not provide evidence for either pathogenicity (PP4) or benignity (BP5).
The variant has been reported in ClinVar as Likely benign by 4 clinical laboratories and as Uncertain significance by 2 laboratories (ClinVar ID: 96863), though no expert panel classification has been assigned.
The adjacent canonical splice acceptor variant c.7977-1G>C is a well-established pathogenic variant (Parsons et al. 2019 posterior probability = 0.999; IARC Class 5), but c.7977-15T>G does not disrupt the splice consensus and is predicted to be splicing-neutral by SpliceAI.
Overall, only BP4_Supporting is met. Under the ENIGMA Table 3 combining rules, a single supporting benign criterion does not reach the threshold for Likely Benign (which requires either Strong_benign + Supporting_benign or >= 2 Supporting_benign). This variant is classified as a Variant of Uncertain Significance (VUS).
No criteria match.
Met · 1
BP4 SupportingIntronic variant at c.7977-15, outside the native acceptor splice site +/-1,2 positions. SpliceAI max delta score = 0.03 (<= 0.1), predicting no significant splicing impact. Meets ENIGMA BP4_Supporting criteria for intronic variants outside canonical splice sites with no predicted splicing effect. Details ▾Hide ▴
Evidence considered
- c.7977-15 is outside +/-1
- 2 acceptor splice consensus positions.
- SpliceAI max delta = 0.03 (DS_AG=0.01
- DS_AL=0.03
- DS_DG=0.00
- DS_DL=0.02)
- satisfying the <= 0.1 threshold.
- Per ENIGMA Figure 1A: intronic variants outside +/-1
- 2 with SpliceAI <= 0.1 → BP4_Supporting.
Sources
Not met · 12 · evaluated, threshold not reached
PS1 No previously classified pathogenic or likely pathogenic variant identified at the c.7977-15 position with the same predicted splicing effect. No comparator variant found in ENIGMA VCEP materials or ClinVar expert panel submissions. Details ▾Hide ▴
PS3 Not listed in ENIGMA Specifications Table 9 (curated functional assay results for BRCA2). No functional assay data demonstrating a damaging effect on protein function or splicing for this intronic variant. The adjacent canonical splice variant c.7977-1G>C is pathogenic, but the -15 position has no functional evidence. Details ▾Hide ▴
Evidence considered
- Variant absent from ENIGMA Table 9 curated functional assay results.
- No published functional studies of c.7977-15T>G identified.
Sources
vcep_specifications_table9_v1_2_2024_11_18cspec ↗
PS4 No case-control study data available. Not listed in ENIGMA ST7 reference set. Variant absent from COSMIC. ClinVar submissions do not include PS4-level case-control evidence. Published literature reviewed consists of clinical practice guidelines and policy statements with no variant-specific case data. Details ▾Hide ▴
Evidence considered
- Not present in ENIGMA ST7 reference set.
- Not reported in COSMIC.
- No case-control data in ClinVar submissions.
Sources
vcep_supplementarytables_v1_2_2024_11_18clinvar ↗
PM2 Under ENIGMA PM2_Supporting, the variant must be absent from both gnomAD v2.1 (non-cancer, exome only) and gnomAD v3.1 (non-cancer). The variant is absent from gnomAD v2.1 but is present in gnomAD v3.1/v4.1 with 1 genome allele and 2 total alleles (all in European non-Finnish, an outbred population). Additionally, ENIGMA states a single observation in an outbred population is not informative; here there are 2 observations. The variant does not meet the strict 'absent from both' requirement. Details ▾Hide ▴
Evidence considered
- Absent from gnomAD v2.1 (exome).
- Present in gnomAD v4.1: 2/1
- 604
- 172 total alleles (AF = 1.25e-06)
- both in NFE population (outbred). Genome: 1 allele. Exome: 1 allele.
Sources
PP1 No co-segregation data available. The variant was included in the Easton et al. 2007 dataset with 1 family history score entry (SuppT2 of Parsons et al. 2019), but no quantitative co-segregation LR has been calculated. The ENIGMA PP1 rule requires LR >= 2.08 for supporting evidence. Details ▾Hide ▴
Evidence considered
- One family history entry in Easton 2007 dataset per Parsons et al. 2019 SuppT2
- no quantitative co-segregation LR reported.
Still missing
- No formal co-segregation analysis performed.
Sources
vcep_humu_40_1557_s001cspec ↗
PP3 ENIGMA PP3 for intronic variants outside donor/acceptor +/-1,2 positions requires SpliceAI delta >= 0.2. The SpliceAI max delta score for this variant is 0.03, well below the threshold. This is an intronic variant, not a missense substitution, so the BayesDel protein prediction pathway does not apply. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.03 (DS_AG=0.01
- DS_AL=0.03
- DS_DG=0.00
- DS_DL=0.02).
- ENIGMA PP3 splicing threshold (SpliceAI >= 0.2) not met.
Sources
PP4 Not found in the Li et al. 2020 (PMID:31853058) clinical history LR table for BRCA2. The variant was assessed in Parsons et al. 2019 multifactorial analysis (SuppT1 of HUMU-40-1557-s001): combined LR = 1.11 (co-occurrence LR = 1.02; family history LR = 1.08). The combined LR of 1.11 falls within the neutral zone (>0.48, <2.08) and does not reach the ENIGMA PP4_Supporting threshold of LR >= 2.08. Details ▾Hide ▴
Evidence considered
- Not in Li et al. 2020 clinical history LR table.
- Parsons et al. 2019 combined LR = 1.11 (neutral zone
- does not meet PP4_Supporting threshold of LR >= 2.08).
Sources
BA1 ENIGMA BA1 requires FAF > 0.1% (0.001) in gnomAD non-founder populations. The gnomAD v4.1 grpmax FAF is 2.8e-07 (0.000028%), well below the BA1 stand-alone benign threshold. The variant is extremely rare in population databases. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 grpmax FAF = 2.8e-07 (0.000028%)
- far below BA1 threshold of 0.1%.
- Total AF = 1.25e-06 (2/1
- 604
- 172 alleles).
Sources
BS1 ENIGMA BS1_Strong requires FAF > 0.01% (0.0001); BS1_Supporting requires FAF > 0.002% (0.00002) and <= 0.01%. The gnomAD v4.1 grpmax FAF is 2.8e-07 (0.000028%), which does not exceed either threshold. The variant is too rare to meet BS1 at any strength. Details ▾Hide ▴
Evidence considered
- gnomAD v4.1 grpmax FAF = 2.8e-07
- below both BS1_Strong (0.0001) and BS1_Supporting (0.00002) thresholds.
Sources
BS3 Not listed in ENIGMA Specifications Table 9 (curated functional assay results for BRCA2). No published functional studies demonstrating a benign effect on protein function or splicing for this intronic variant. Details ▾Hide ▴
Evidence considered
- Variant absent from ENIGMA Table 9 curated functional assay results.
Sources
vcep_specifications_table9_v1_2_2024_11_18cspec ↗
BP5 Not found in the Li et al. 2020 (PMID:31853058) clinical history LR table for BRCA2. The Parsons et al. 2019 combined LR of 1.11 falls in the neutral zone (>0.48, <2.08) and does not meet the ENIGMA BP5_Supporting threshold of LR <= 0.48. Details ▾Hide ▴
Evidence considered
- Not in Li et al. 2020 clinical history LR table.
- Parsons et al. 2019 combined LR = 1.11 (neutral zone
- does not meet BP5_Supporting threshold of LR <= 0.48).
Sources
BP7 ENIGMA BP7_Supporting for intronic variants requires position at or beyond +7 (donor) or -21 (acceptor) AND BP4 met. This variant is at c.7977-15, which is 15 bases upstream of exon 18, within the -21 boundary of the acceptor splice site. Does not satisfy the positional requirement. BP7_Strong (RNA) requires mRNA assay data showing no damaging effect; no RNA assay data are available. Details ▾Hide ▴
Evidence considered
- Position -15 is within the -21 acceptor boundary
- does not meet the 'at or beyond -21' positional requirement for BP7_Supporting.
- No mRNA assay data available for BP7_Strong (RNA).
Sources
Not assessed · 2 · no assessment recorded
BS2 ENIGMA BS2 requires assessment of absence of Fanconi Anemia phenotype features in probands with co-occurrent variants in BRCA2. No proband-level phenotype data or co-occurrence data are available for this variant. Cannot assign BS2 without individual-level data. Details ▾Hide ▴
Evidence considered
- No proband-level data or co-occurrence data available for BS2 point assignment.
Still missing
- Proband phenotype data and co-occurrence variant data required for BS2 assessment.
Sources
BS4 ENIGMA BS4 requires quantitative lack of segregation in affected family members (LR <= 0.48 for Supporting). No segregation data are available. The Parsons et al. 2019 SuppT1 combined LR of 1.11 is in the neutral zone, not meeting BS4 thresholds. Details ▾Hide ▴
Evidence considered
- No segregation LR data available. Combined LR of 1.11 is neutral
- not supportive of BS4.
Still missing
- Segregation analysis data needed to assess BS4.
Sources
cspec ↗vcep_humu_40_1557_s001
Not applicable · 14· recorded as not applicable Show reasons ▾Hide reasons ▴
PVS1 N/AIntronic variant at c.7977-15, 15 bases upstream of exon 18 acceptor site. Not a canonical +/-1,2 splice consensus variant. Does not meet the ENIGMA PVS1 definition of a null variant (nonsense, frameshift, canonical splice site, initiation codon, or exon deletion). No mRNA assay data suggestive of a damaging splicing effect (SpliceAI max delta = 0.03). Details ▾Hide ▴
Evidence considered
- Intronic substitution at position -15 from exon 18 acceptor
- outside canonical +/-1
- 2 splice consensus.
- SpliceAI max delta score 0.03 predicts no significant splice impact.
Sources
PS2 VCEPENIGMA BRCA2 VCEP specification marks PS2 as Not Applicable. Details ▾Hide ▴
PM1 VCEPENIGMA VCEP specification states PM1 is considered as a component of bioinformatic analysis (PP3/BP4) rather than an independent criterion. Details ▾Hide ▴
Evidence considered
- Captured by PP3/BP4 bioinformatic analysis per ENIGMA specifications.
Sources
PM3 N/ASkipped per user directive. Details ▾Hide ▴
No further detail was recorded.
PM4 VCEPSkipped per user directive. Additionally, ENIGMA VCEP marks PM4 as Not Applicable. Details ▾Hide ▴
PM5 N/AENIGMA PM5 is repurposed for protein termination codon (PTC) logic (PM5_PTC). This intronic substitution at -15 is not a PTC variant. Classic same-residue missense PM5 is not applicable to intronic variants. Details ▾Hide ▴
Evidence considered
- Intronic substitution
- not a PTC or missense variant eligible for PM5.
Sources
cspec ↗pm5_candidates
PM6 VCEPENIGMA BRCA2 VCEP specification marks PM6 as Not Applicable. Details ▾Hide ▴
PP2 VCEPENIGMA BRCA2 VCEP specification marks PP2 as Not Applicable. Details ▾Hide ▴
PP5 VCEPENIGMA BRCA2 VCEP specification states PP5 is Not Applicable for this VCEP, as recommended by the ClinGen Sequence Variant Interpretation VCEP Review Committee. Details ▾Hide ▴
BP1 N/AENIGMA BP1 applies to silent substitutions, missense variants, or in-frame indels outside clinically important functional domains. This is an intronic substitution at c.7977-15; it is not a silent, missense, or in-frame coding variant. BP1 is not applicable to intronic variants. Details ▾Hide ▴
BP2 VCEPENIGMA BRCA2 VCEP specification marks BP2 as Not Applicable. Details ▾Hide ▴
BP3 VCEPENIGMA VCEP specification states BP3 is captured by bioinformatic tool prediction and domain analysis; not independently applied. Details ▾Hide ▴
BP6 VCEPENIGMA BRCA2 VCEP specification marks BP6 as Not Applicable. Details ▾Hide ▴
PS5 N/AENIGMA BRCA2 VCEP specification marks PS5 as Not Applicable. Details ▾Hide ▴
Identifiers
- Gene
- BRCA2
- Transcript
- NM_000059.4
- Coding (HGVS c.)
- NM_000059.4:c.7977-15T>G
- Protein (HGVS p.)
- NP_000050.3:p.?
- GRCh38
- chr13:32363164 T>G
- GRCh37
- chr13:32937301 T>G
- ClinVar
- 96863
Gene diagram
Every interpreted variant in BRCA2, mapped onto the exon structure of NM_000059.4. Select a row to find it on the plot.
BRCA2NM_000059.4
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 BRCA2
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
2 / 1,604,172 alleles
AF 1.25e-06 · 0 homozygotes · FAF 2.8e-07
gnomAD v2.1
Allele count data not recorded
gnomAD-Canada v1.0
Allele count data not recorded
By genetic ancestry
gnomAD v4.1
AF 1.2e-06 · 2 / 1,604,172 alleles · 0 hom · FAF 2.8e-07
| European (non-Finnish)2 / 1,171,990 | 1.7e-06 |
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= 1.24675e-06; MAF= 0.00012%, 2/1604172 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 1.7065e-06; MAF= 0.00017%, 2/1171990 alleles, homozygotes = 0); grpmax FAF= 2.8e-07.
gnomAD v2.1
Absent from gnomAD v2.1.
gnomAD-Canada
Absent from gnomAD-Canada v1.0.
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
BP4 SupportingIntronic variant at c.7977-15, outside the native acceptor splice site +/-1,2 positions. SpliceAI max delta score = 0.03 (<= 0.1), predicting no significant splicing impact. Meets ENIGMA BP4_Supporting criteria for intronic variants outside canonical splice sites with no predicted splicing effect. Details ▾Hide ▴
Evidence considered
- c.7977-15 is outside +/-1
- 2 acceptor splice consensus positions.
- SpliceAI max delta = 0.03 (DS_AG=0.01
- DS_AL=0.03
- DS_DG=0.00
- DS_DL=0.02)
- satisfying the <= 0.1 threshold.
- Per ENIGMA Figure 1A: intronic variants outside +/-1
- 2 with SpliceAI <= 0.1 → BP4_Supporting.
Sources
PP3 ENIGMA PP3 for intronic variants outside donor/acceptor +/-1,2 positions requires SpliceAI delta >= 0.2. The SpliceAI max delta score for this variant is 0.03, well below the threshold. This is an intronic variant, not a missense substitution, so the BayesDel protein prediction pathway does not apply. Details ▾Hide ▴
Evidence considered
- SpliceAI max delta = 0.03 (DS_AG=0.01
- DS_AL=0.03
- DS_DG=0.00
- DS_DL=0.02).
- ENIGMA PP3 splicing threshold (SpliceAI >= 0.2) not met.
Sources
BP7 ENIGMA BP7_Supporting for intronic variants requires position at or beyond +7 (donor) or -21 (acceptor) AND BP4 met. This variant is at c.7977-15, which is 15 bases upstream of exon 18, within the -21 boundary of the acceptor splice site. Does not satisfy the positional requirement. BP7_Strong (RNA) requires mRNA assay data showing no damaging effect; no RNA assay data are available. Details ▾Hide ▴
Evidence considered
- Position -15 is within the -21 acceptor boundary
- does not meet the 'at or beyond -21' positional requirement for BP7_Supporting.
- No mRNA assay data available for BP7_Strong (RNA).
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03).
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
-
PMID 25741868 ↗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 et al. 2015 ACMG/AMP standards and guidelines for the interpretation of sequence variants. Foundational classification framework document. No mention of any specific BRCA2 variant.Does not name this variant
-
PMID 12692171 ↗American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.American Society of Clinical Oncology · 2003ASCO 2003 policy statement update on genetic testing for cancer susceptibility. General policy document referencing BRCA1/2 testing criteria. No variant-level content.Does not name this variant
-
PMID 20065170 ↗American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.Robson ME et al. · 2010ASCO policy statement update on genetic and genomic testing for cancer susceptibility. Discusses BRCA1/2 testing frameworks at the policy level. No specific variant-level data.Does not name this variant
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PMID 20301425 ↗BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.Adam MP et al. · 1993GeneReviews entry for BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. Clinical synopsis, no variant-specific data in the abstract or title.Does not name this variant
-
PMID 23188549 ↗NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.NSGC practice guideline for risk assessment and genetic counseling for hereditary breast and ovarian cancer. Provides clinical practice recommendations. No variant-specific data.Does not name this variant
-
PMID 24493721 ↗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 for oncology providers. Focuses on family history collection standards. No variant-specific mention.Does not name this variant
-
PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Nykamp et al. 2017 Sherloc refinement of ACMG-AMP variant classification criteria. Background methodology paper. No variant-specific data for BRCA2.Does not name this variant
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
2 / 1,604,172 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.030
Open source ↗
ClinVar
4 Likely benign · 2 Uncertain significance · 1 Likely Benign
Open source ↗
COSMIC
Captured COSMIC source record
Open source ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/1535438831
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/96863/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/13-32937301-T-G?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr13-32363164-T-G?dataset=gn…
- gnomAD-Canada ↗http://192.168.4.76:8001/variant/13-32363164-T-G
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000059.4%3Ac.7977…
- OncoKB ↗www.oncokb.org/gene/BRCA2/?
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=BRCA2+c.7977-15T%3EG
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= 1.24675e-06; MAF= 0.00012%, 2/1604172 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 1.7065e-06; MAF= 0.00017%, 2/1171990 alleles, homozygotes = 0); grpmax FAF= 2.8e-07.
gnomAD v2.1
Absent from 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 Uncertain significance (2 clinical laboratories) and as Likely Benign (1 clinical laboratory). (ClinVarID = 96863)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.03).
Somatic
This variant has not previously been reported in somatic cancers (COSMIC).