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Results for "BRCA2"

Variant Events: 26

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
BRCA2     SSC00085chr13:
32931893-32931893		CTexonicDe novosynonymous SNVNM_000059c.C7632Tp.G2544G-3.313E-5Lim2017 E
BRCA2     PN400108chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400113chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     Disecmas_081Pchr13:
32912922-32912922		TCexonicDe novononsynonymous SNVNM_000059c.T4430Cp.I1477T0.702-Fu2022 E
BRCA2     PN400286chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400249chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400554chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     AU079104chr13:
32928893-32928893		GAintronicDe novo--Trost2022 G
Yuen2017 G
BRCA2     PN400584chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     2-1436-003chr13:
32949577-32949577		AGintronicDe novo--Trost2022 G
Yuen2017 G
BRCA2     AU055603chr13:
32970818-32970818		TGintronicDe novo--Trost2022 G
BRCA2     09C88971chr13:
32915264-32915264		GAexonicDe novononsynonymous SNVNM_000059c.G6772Ap.E2258K0.0118.268E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BRCA2     09C89530chr13:
32929306-32929306		GAexonicDe novononsynonymous SNVNM_000059c.G7316Ap.G2439E3.923-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BRCA2     SP0100680chr13:
32915306-32915306		AGexonicnonsynonymous SNVNM_000059c.A6814Gp.R2272G18.47-Zhou2022 GE
BRCA2     AU2139303chr13:
32947964-32947964		CTintronicDe novo--Trost2022 G
BRCA2     UK10K_SKUSE5080218chr13:
32968952-32968952		GAexonicDe novononsynonymous SNVNM_000059c.G9383Ap.R3128Q15.058.244E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BRCA2     PN400260chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     REACH000514chr13:
32958167-32958169		CAGCintronicDe novo--Trost2022 G
BRCA2     PN400507chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     mAGRE5364chr13:
32914437-32914438		GTGexonicPaternalframeshift deletionNM_000059c.5946delTp.S1982fs-3.0E-4Cirnigliaro2023 G
BRCA2     mAGRE5428chr13:
32903604-32903606		CTGCexonicPaternalframeshift deletionNM_000059c.657_658delp.T219fs-6.119E-5Cirnigliaro2023 G
BRCA2     PN400590chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400488chr13:
32972626-32972626		ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     11149.p1chr13:
32931893-32931893		CTexonicDe novosynonymous SNVNM_000059c.C7632Tp.G2544G-3.313E-5Krumm2015 E
Zhou2022 GE
BRCA2     mAGRE5432chr13:
32972745-32972745		CCTexonicMaternalframeshift insertionNM_000059c.10095_10096insTp.V3365fs-3.0E-4Cirnigliaro2023 G
BRCA2     mAGRE5365chr13:
32914437-32914438		GTGexonicPaternalframeshift deletionNM_000059c.5946delTp.S1982fs-3.0E-4Cirnigliaro2023 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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