rs80358785

Variant names:

• chr13-32340000-C-A
• rs80358785
• NM_000059.4:c.5645C>A

Your query was ambiguous. Multiple possible variants found:

• chr13-32340000-C-A
• chr13-32340000-C-G

Variant summary

Our verdict is Pathogenic. Variant got 16 ACMG points: 16P and 0B. PVS1 PP5_Very_Strong

The NM_000059.4(BRCA2):​c.5645C>A​(p.Ser1882*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000822 in 1,460,314 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★★★). Variant results in nonsense mediated mRNA decay.

• Frequency:
  • Genomes: not found (cov: 33)
  • Exomes 𝑓: 0.0000082 (0 hom.)
• Consequence: BRCA2 NM_000059.4 stop_gained
• Clinical Significance: Pathogenic reviewed by expert panel P:43 U:1 O:1
• Conservation: PhyloP100: 1.79

Genes affected

BRCA2 (HGNC:1101): (BRCA2 DNA repair associated) Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]

ACMG classification

Verdict is Pathogenic. Variant got 16 ACMG points.

• PVS1: Loss of function variant, product undergoes nonsense mediated mRNA decay. LoF is a known mechanism of disease.
• PP5: Variant 13-32340000-C-A is Pathogenic according to our data. Variant chr13-32340000-C-A is described in ClinVar as [Pathogenic]. Clinvar id is 37984.Status of the report is reviewed_by_expert_panel, 3 stars. Variant chr13-32340000-C-A is described in Lovd as [Pathogenic]. Variant chr13-32340000-C-A is described in Lovd as [Pathogenic].

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BRCA2	NM_000059.4	c.5645C>A	p.Ser1882*	stop_gained	Exon 11 of 27	ENST00000380152.8	NP_000050.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BRCA2	ENST00000380152.8	c.5645C>A	p.Ser1882*	stop_gained	Exon 11 of 27	5	NM_000059.4	ENSP00000369497.3
BRCA2	ENST00000530893.7	c.5276C>A	p.Ser1759*	stop_gained	Exon 11 of 27	1		ENSP00000499438.2
BRCA2	ENST00000614259.2	n.5645C>A		non_coding_transcript_exon_variant	Exon 10 of 26	2		ENSP00000506251.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD3 exomes AF: 0.0000160 AC: 4 AN: 249416 Hom.: 0 AF XY: 0.0000222 AC XY: 3 AN XY: 134860

Gnomad AFR exome AF: 0.00

Gnomad AMR exome AF: 0.00

Gnomad ASJ exome AF: 0.00

Gnomad EAS exome AF: 0.0000545

Gnomad SAS exome AF: 0.00

Gnomad FIN exome AF: 0.00

Gnomad NFE exome AF: 0.0000266

Gnomad OTH exome AF: 0.00

GnomAD4 exome AF: 0.00000822 AC: 12 AN: 1460314 Hom.: 0 Cov.: 45 AF XY: 0.00000826 AC XY: 6 AN XY: 726310

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.0000252

Gnomad4 SAS exome AF: 0.0000233

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000720

Gnomad4 OTH exome AF: 0.0000166

GnomAD4 genome Cov.: 33

Bravo AF: 0.00000756

ExAC AF: 0.0000247 AC: 3

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:43 Uncertain:1 Other:1

Revision: reviewed by expert panel

Submissions by phenotype

Breast-ovarian cancer, familial, susceptibility to, 2 Pathogenic:11

Oct 08, 2014

Genome Diagnostics Laboratory, University Medical Center Utrecht

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

May 29, 2002

Breast Cancer Information Core (BIC) (BRCA2)

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Feb 21, 2019

Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The c.5645C>A (p.Ser1882*) variant in the BRCA2 gene is predicted to introduce a premature translational termination codon. This variant has been reported in multiple families affected with Hereditary Breast and Ovarian Cancer (PMID 10550133, 22144684, 28324225) and has also been reported in individuals affected with triple negative breast cancer (PMID 22666503), ovarian cancer (PMID 26439132) or metastatic prostate cancer (PMID 27433846). This variant is extremely rare in general population. Therefore, this c.5645C>A (p.Ser1882*) variant in the BRCA2 gene is classified as pathogenic. -

Aug 19, 2011

Sharing Clinical Reports Project (SCRP)

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Oct 02, 2015

Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Apr 22, 2016

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)

Significance: Pathogenic

Review Status: reviewed by expert panel

Collection Method: curation

Variant allele predicted to encode a truncated non-functional protein. -

Feb 11, 2015

Institute of Human Genetics, Medical University Innsbruck

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

-

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Mar 02, 2020

BRCAlab, Lund University

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Jul 01, 2015

Department of Medical Genetics, Oslo University Hospital

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Sep 21, 2015

Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

not provided Pathogenic:9 Uncertain:1

Dec 05, 2022

Revvity Omics, Revvity

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jan 19, 2021

GeneDx

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 25682074, 30287823, 30430080, 29339979, 29446198, 30093976, 31263054, 15689453, 10660329, 22144684, 22535016, 22666503, 21952622, 22009639, 26439132, 26221963, 26064523, 25863477, 25802882, 27225637, 25525159, 24916970, 24249303, 27533253, 27836010, 26733283, 27271530, 27767231, 15131399, 26848529, 27433846, 28283652, 28324225, 28259476, 29084914, 28724667, 28993434, 28715532, 29215753, 29659587, 29346284, 30274973, 30078507, 30720243, 30702160, 30322717, 27257965, 32467295, 11597388, 32318955, 31447099, 32853339, 32341426, 31825140, 32710294, 30875412, 33608381, 30787465, 31742824) -

-

Department of Pathology and Laboratory Medicine, Sinai Health System

Significance: Uncertain significance

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Oct 02, 2023

Clinical Genetics Laboratory, Skane University Hospital Lund

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Aug 07, 2021

Quest Diagnostics Nichols Institute San Juan Capistrano

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This nonsense variant causes the premature termination of BRCA2 protein synthesis. In addition, it has been reported in individuals with breast or prostate cancer in the published literature (PMID: 33918338 (2020), 27433846 (2016) and 22666503 (2012)). Based on the available information, this variant is classified as pathogenic. -

Sep 04, 2019

Clinical Genetics and Genomics, Karolinska University Hospital

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jul 29, 2022

Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

PVS1, PS4, PM2_SUP -

-

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

-

Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Nov 01, 2024

CeGaT Center for Human Genetics Tuebingen

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

BRCA2: PVS1, PM2, PS4:Moderate -

Hereditary breast ovarian cancer syndrome Pathogenic:5

Jan 17, 2018

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The p.Ser1882X variant in BRCA2 has been reported in >60 individuals with BRCA2- associated cancers and segregated with disease in 2 affected relatives from 2 fa milies (Caputo 2012, De Silva 2017, Heidemann2012, Rebbeck 2016, Reid 2005). Thi s variant has also been identified in 1/17202 East Asian and 2/110946 European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs80358785). This nonsense variant leads to a premature terminati on codon at position 1882, which is predicted to lead to a truncated or absent p rotein. Heterozygous loss of function of the BRCA2 gene is an established diseas e mechanism in hereditary breast and ovarian cancer (HBOC). In addition, this va riant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENI GMA expert panel (ClinVar SCV000282410.1). In summary, this variant meets criter ia to be classified as pathogenic for HBOC in an autosomal dominant manner based upon predicted impact to the protein, absence in the general population and pre sence in multiple affected individuals. ACMG/AMP Criteria applied: PVS1; PS4; PM 2 (Richards 2015). -

May 31, 2016

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Variant summary: The BRCA2 c.5645C>A (p.Ser1882X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/120628 (1/40160, 0.0000249), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333 (0.0007503). In addition, it needs to be noted that these three occurrences need to be cautiously considered due to the fact that the ExAC cohort contains individuals that could harbor a BRCA2 phenotype. However, multiple affected individuals have been reported via publications, along with numerous reputable databases/clinical laboratories citing the variant as "pathogenic." Therefore, the variant of interest has been classified as Pathogenic. -

Jan 02, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This sequence change creates a premature translational stop signal (p.Ser1882*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80358785, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with breast, ovarian and prostate cancer (PMID: 15024741, 21952622, 22144684, 22535016, 22666503). This variant is also known as 5873C>A. ClinVar contains an entry for this variant (Variation ID: 37984). For these reasons, this variant has been classified as Pathogenic. -

Jan 31, 2014

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: research

- -

Feb 01, 2022

Research Institute, Aichi Cancer Center

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: research

- -

Familial cancer of breast Pathogenic:4

Jan 14, 2024

Baylor Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jan 01, 2020

GeneKor MSA

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant is a single amino acid change from Serine to a Termination codon at amino acid residue 1882 of the BRCA2 gene. It is expected to result in a truncated, non-functional protein. Truncating variants in the BRCA2 gene are known to be pathogenic. This variant is also known as 5873C>A in the literature and has been described in patients and families with breast, ovarian and prostate cancer (PMID: 22144684, 22535016, 22666503, 21952622, 15024741). The mutation database ClinVar contains entries for this variant (Variation ID: 37984). -

Apr 29, 2024

Institute of Human Genetics, University of Leipzig Medical Center

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

Criteria applied: PVS1,PM5_STR,PM2_SUP -

-

Center for Precision Medicine, Meizhou People's Hospital

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: literature only

- -

Breast and/or ovarian cancer Pathogenic:3

Feb 13, 2004

Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: clinical testing

- -

Mar 17, 2017

CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Jun 11, 2019

CZECANCA consortium

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: case-control;clinical testing

- -

Hereditary cancer-predisposing syndrome Pathogenic:3

Dec 20, 2021

Sema4, Sema4

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: curation

- -

Aug 26, 2024

Ambry Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The c.5645C>A (p.S1882*) alteration, located in exon 11 (coding exon 10) of the BRCA2 gene, consists of a C to A substitution at nucleotide position 5645. This changes the amino acid from a serine (S) to a stop codon at amino acid position 1882. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the A allele has an overall frequency of 0.002% (4/249416) total alleles studied. The highest observed frequency was 0.006% (1/18348) of East Asian alleles. This variant has been reported in an individual diagnosed with triple negative breast cancer at age 37 (Meyer, 2012), in two individuals with ovarian cancer (Sakamoto, 2016), and in a family with multiple cases of breast cancer (Verhoog, 1999). In another study, this variant was reported as an Eastern European founder mutation (Caputo, 2012). This variant has also been detected in a cohort of affected patients meeting genetic testing criteria for HBOC (Meisel, 2017), a cohort of patients with metastatic prostate cancer (Pritchard, 2016), as well as in multiple cohorts of unselected breast cancer patients (Sun, 2017; Zhong, 2016). In a large, clinic-based BRCA1/2 testing cohort in Norway, this variant was detected in 7 members of one family (Heramb, 2018). Based on the available evidence, this alteration is classified as pathogenic. -

Jan 16, 2024

Color Diagnostics, LLC DBA Color Health

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in at least 12 individuals affected with breast and/or ovarian cancer (PMID: 15024741, 15689453, 20104584, 22535016, 22666503, 26439132, 27257965, 28039656, 28724667, 30287823, 33471991; Leiden Open Variation Database DB-ID BRCA2_000141) and four individuals affected with prostate cancer (PMID: 27433846, 31214711). This variant also has been reported in two siblings who were compound heterozygous carriers with a second pathogenic BRCA2 variant and were both affected with Wilms tumor (PMID: 15689453). This variant has been identified in 4/249416 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. -

Medulloblastoma;C0346153:Familial cancer of breast;C0376358:Malignant tumor of prostate;C1838457:Fanconi anemia complementation group D1;C2675520:Breast-ovarian cancer, familial, susceptibility to, 2;C2751641:Glioma susceptibility 3;C3150546:Pancreatic cancer, susceptibility to, 2;CN033288:Wilms tumor 1 Pathogenic:1

Apr 08, 2022

Fulgent Genetics, Fulgent Genetics

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

- -

Malignant tumor of prostate;C4763838:Metastatic Prostate Small Cell Carcinoma Pathogenic:1

Apr 15, 2020

Rudy L. Ruggles Biomedical Research Institute, Danbury Hospital

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: research

This BRCA2 variant (rs80358785) has been found in 65 year-old man with a germline BRCA2 mutation who developed explosive treatment-emergent, small-cell neuroendocrine prostate cancer. -

BRCA2-related cancer predisposition Pathogenic:1

Jul 29, 2024

All of Us Research Program, National Institutes of Health

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

This variant changes 1 nucleotide in exon 11 of the BRCA2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least 12 individuals affected with breast and/or ovarian cancer (PMID: 15024741, 15689453, 20104584, 22535016, 22666503, 26439132, 27257965, 28039656, 28724667, 30287823, 33471991; Leiden Open Variation Database DB-ID BRCA2_000141) and four individuals affected with prostate cancer (PMID: 27433846, 31214711). This variant also has been reported in two siblings who were compound heterozygous carriers with a second pathogenic BRCA2 variant and were both affected with Wilms tumor (PMID: 15689453). This variant has been identified in 4/249416 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. -

Breast neoplasm Pathogenic:1

Nov 01, 2015

Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: research

- -

Gastric cancer Pathogenic:1

Jul 01, 2021

Laboratory for Genotyping Development, RIKEN

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: research

- -

Ovarian neoplasm Pathogenic:1

Dec 01, 2018

German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne

Significance: Pathogenic

Review Status: no assertion criteria provided

Collection Method: research

- -

Breast carcinoma Pathogenic:1

Dec 10, 2021

Institute of Human Genetics, University of Leipzig Medical Center

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

_x000D_ Criteria applied: PVS1, PS4, PM2_SUP -

not specified Pathogenic:1

Mar 26, 2019

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Significance: Pathogenic

Review Status: criteria provided, single submitter

Collection Method: clinical testing

The BRCA2 c.5645C>A; p.Ser1882Ter variant (rs80358785), also known as 5873C>A, is reported in several individuals with hereditary breast and ovarian cancer syndrome and is described as a founder mutation in the Eastern European population (Caputo 2012, Heramb 2018, Meisel 2017, Momozawa 2018). It has also been reported in two brothers with Wilms tumor and brain tumors, who also carry an additional truncating variant in trans (Reid 2005). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 37984). It is found in the general population with a low overall allele frequency of 0.002% (4/249416 alleles) in the Genome Aggregation Database. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Caputo S et al. Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. Heramb C et al. BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. Hered Cancer Clin Pract. 2018 Jan 10;16:3. Meisel C et al. Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. Arch Gynecol Obstet. 2017 May;295(5):1227-1238. Momozawa Y et al. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. Nat Commun. 2018 Oct 4;9(1):4083. Reid S et al. Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. J Med Genet. 2005 Feb;42(2):147-51. -

BRCA2-related disorder Other:1

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GenomeConnect - Invitae Patient Insights Network

Significance: not provided

Review Status: no classification provided

Collection Method: phenotyping only

Variant interpreted as Pathogenic and reported on 05-19-2017 by Lab Myriad Genetics. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_addAF	Pathogenic	0.26	D
BayesDel_noAF	Pathogenic	0.31
CADD	Pathogenic	34
DANN	Uncertain	0.99
Eigen	Uncertain	0.33
Eigen_PC	Benign	0.059
FATHMM_MKL	Benign	0.35	N
Vest4		0.94
GERP RS		5.7

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs80358785; hg19: chr13-32914137; COSMIC: COSV66450717;