13-32339421-CAAAA-CAAAAA
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Variant summary
Our verdict is Pathogenic. Variant got 16 ACMG points: 16P and 0B. PVS1PP5_Very_Strong
The NM_000059.4(BRCA2):c.5073dup(p.Trp1692MetfsTer3) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000371 in 1,589,490 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (★★★). Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.000020 ( 0 hom., cov: 33)
Exomes 𝑓: 0.000039 ( 0 hom. )
Consequence
BRCA2
NM_000059.4 frameshift
NM_000059.4 frameshift
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -0.0410
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]
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ACMG classification
Classification made for transcript
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 13-32339421-C-CA is Pathogenic according to our data. Variant chr13-32339421-C-CA is described in ClinVar as [Pathogenic]. Clinvar id is 37943.Status of the report is reviewed_by_expert_panel, 3 stars.
Transcripts
RefSeq
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|
| BRCA2 | NM_000059.4 | c.5073dup | p.Trp1692MetfsTer3 | frameshift_variant | 11/27 | ENST00000380152.8 | NP_000050.3 |
Ensembl
| Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
|---|---|---|---|---|---|---|---|---|---|---|
| BRCA2 | ENST00000380152.8 | c.5073dup | p.Trp1692MetfsTer3 | frameshift_variant | 11/27 | 5 | NM_000059.4 | ENSP00000369497 | A2 |
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GnomAD3 genomes 0.0000198 AC: 3AN: 151574Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.0000173 AC: 4AN: 230778Hom.: 0 AF XY: 0.0000239 AC XY: 3AN XY: 125284
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ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:45Other:3
Revision: reviewed by expert panel
LINK: link
Submissions by phenotype
Breast-ovarian cancer, familial, susceptibility to, 2 Pathogenic:14Other:1
| Pathogenic, no assertion criteria provided | clinical testing | BRCAlab, Lund University | Mar 02, 2020 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | Oct 02, 2015 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Molecular Endocrinology Laboratory, Christian Medical College | - | - - |
| Pathogenic, criteria provided, single submitter | research | HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | Jul 12, 2018 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | Feb 14, 2022 | ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate - |
| not provided, no classification provided | phenotyping only | GenomeConnect, ClinGen | - | Variant interpretted as Pathogenic and reported on 08-30-2017 by Lab or GTR ID 505849. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. - |
| Pathogenic, criteria provided, single submitter | literature only | Counsyl | Sep 11, 2014 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | May 27, 2024 | PVS1; PM5_PTC_Strong - |
| Pathogenic, no assertion criteria provided | clinical testing | Sharing Clinical Reports Project (SCRP) | Oct 03, 2012 | - - |
| Pathogenic, no assertion criteria provided | clinical testing | Breast Cancer Information Core (BIC) (BRCA2) | May 29, 2002 | - - |
| Pathogenic, reviewed by expert panel | curation | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | Apr 22, 2016 | Variant allele predicted to encode a truncated non-functional protein. - |
| Pathogenic, no assertion criteria provided | clinical testing | Department of Pathology and Laboratory Medicine, Sinai Health System | - | The BRCA2 p.Trp1692MetfsX3 variant was identified in 10 of 5448 proband chromosomes (frequency: 0.002) from individuals or families with breast and ovarian cancer (Laarabi 2011, Lubinski 2004, Risch 2001, Suter 2004, Ottini 2009, de Juan 2015, Fernandes 2016, Hasmad 2016). It was also found as a de novo change in a patient who developed early onset breast cancer with no strong family history of the disease (Marshall 2009). The variant was identified in the following databases: dbSNP (ID: rs80359480) as "With Pathogenic allele", ClinVar (18x, pathogenic including review by expert panel ENIGMA), Clinvitae, COGR (3x, pathogenic), LOVD 3.0 (23x, affects function), BIC Database (29x, pathogenic), and ARUP Laboratories (pathogenic). The variant was also identified by our laboratory in 4 individuals with breast, ovarian, and pancreatic cancer. The variant was not found in Cosmic, MutDB, UMD-LSDB, or the Zhejiang University Database. The variant was not identified in the control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.5073dupA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1692 and leads to a premature stop codon at position 1694. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA2 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | Oct 12, 2018 | The c.5073dupA (p.Trp1692Metfs*3) variant in the BRCA2 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple patients with breast cancer or ovarian cancer (PMID: 11179017, 14559878, 16683254, 26026974, 26641009). This variant has been seen 29 times in the Breast Cancer Information Core (BIC) dataset and is extremely rare in the general population according to the gnomAD. Therefore, this c.5073dupA (p.Trp1692Metfs*3) variant in the BRCA2 gene is classified as pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Department of Medical Genetics, Oslo University Hospital | Jan 03, 2017 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Nov 30, 2016 | - - |
not provided Pathogenic:12
| Pathogenic, criteria provided, single submitter | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Jun 21, 2024 | PP5, PM2_moderate, PVS1 - |
| Pathogenic, criteria provided, single submitter | clinical testing | GeneDx | Jan 29, 2020 | Frameshift 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; Observed in individuals with BRCA2-related cancers and reported to occur de novo in at least one case (Sutter 2004, Marshall 2009, Laarabi 2011, Elalaoui 2013, de Juan 2015); Not observed at a significant frequency in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 5301dupA or 5301insA; This variant is associated with the following publications: (PMID: 25479140, 22866093, 28486781, 11179017, 14973102, 19796187, 26541979, 26026974, 25452441, 26064523, 14559878, 26787237, 26641009, 26681312, 23621226, 28814288, 16683254, 10923033, 22144684, 29555025, 28477318, 28724667, 29339979, 29907814, 26556299, 28993434, 26187060, 28176296, 30702160, 31060517, 31396961, 27741520, 29625052, 26689913, 31447099, 31263571, 32029870, 31948886) - |
| Pathogenic, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Mar 09, 2023 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | Apr 05, 2022 | The BRCA2 c.5073dupA; p.Trp1692MetfsTer3 variant (rs80359479), also known as 5301_5302insA or 5301insA in traditional nomenclature, is reported in the literature in multiple individuals with hereditary breast and ovarian cancer syndrome (Heramb 2018, Laarabi 2011, Palmero 2018, Wen 2018). This variant has also been reported as a de novo variant in an individual with early onset breast cancer (Marshall 2009), and in an individual with Fanconi anemia who was compound heterozygous with a second pathogenic BRCA2 variant (Offit 2003). The c.5073dupA variant is classified as pathogenic by an expert panel in ClinVar (Variation ID: 37943). This variant causes a frameshift by duplicating a single nucleotide, so it 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: 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. Laarabi FZ et al. Genetic testing and first presymptomatic diagnosis in Moroccan families at high risk for breast/ovarian cancer. Oncol Lett. 2011 Mar;2(2):389-393. Marshall M et al. Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer. Clin Genet. 2009 Nov;76(5):427-30. Offit K et al. Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51. Palmero EI et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Sci Rep. 2018 Jun 15;8(1):9188. Wen WX et al. Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. J Med Genet. 2018 Feb;55(2):97-103. - |
| Pathogenic, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Nov 01, 2024 | BRCA2: PVS1, PM2:Supporting, PS4:Supporting - |
| Pathogenic, criteria provided, single submitter | clinical testing | Quest Diagnostics Nichols Institute San Juan Capistrano | Jul 12, 2023 | The BRCA2 c.5073dup (p.Trp1692Metfs*3) variant alters the translational reading frame of the BRCA2 mRNA and causes the premature termination of BRCA2 protein synthesis. This variant has been reported in the published literature in in individuals with ampullary adenocarcinoma (PMID: 36998040 (2023)), ovarian cancer (PMID: 32850417 (2020)), and breast cancer (PMID: 28486781 (2017), 32365798 (2020)). The frequency of this variant in the general population, 0.000028 (3/107130 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital | Jul 31, 2024 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | GeneKor MSA | Jan 01, 2020 | This sequence change inserts one nucleotide in exon 11 of the BRCA2 mRNA (c.5073dupA), causing a frameshift at codon 1692. This creates a premature translational stop signal 3 amino acid residues later p.(Trp1692Metfs*3) and is expected to result in an absent or disrupted protein product. Truncating variants in the BRCA2 gene are known to be pathogenic. This variant is also known as 5301insA, 5302insA, and c.5066_5067insA in the international literature and has been reported in individuals affected with breast and/or ovarian cancer, pancreatic cancer, and Fanconi anemia (PMID: 11179017, 16683254, 10923033, 22144684, 26787237, 25479140, 14559878). The mutation database ClinVar contains entries for this variant (Variation ID: 37943). - |
| Pathogenic, no assertion criteria provided | research | Gharavi Laboratory, Columbia University | Sep 16, 2018 | - - |
| Pathogenic, no assertion criteria provided | clinical testing | Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute | - | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Clinical Genetics Laboratory, Skane University Hospital Lund | Jan 11, 2024 | - - |
Hereditary breast ovarian cancer syndrome Pathogenic:6Other:1
| Pathogenic, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Apr 24, 2019 | The p.Trp1692MetfsX3 variant in BRCA2 has been identified in >30 individuals of various ethnicities with Fanconi anemia or BRCA2-related cancers (Risch 2001, Offit 2003, Van Der Hout 2006, Laarabi 2011, Breast Cancer Information Core database). It has also been identified in 1/8884 Ashkenazi Jewish chromosomes by the Genome Aggregation Consortium (GnomAD, http://gnomad.broadinstitute.org). This frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1692 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA2 gene is an established disease mechanism in HBOC. In addition, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000282397.1). In summary, this variant meets our criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. ACMG/AMP criteria applied: PVS1, PS4, PM2. - |
| Pathogenic, criteria provided, single submitter | research | Genetics Program, Instituto Nacional de Cancer | Nov 01, 2021 | - - |
| not provided, no classification provided | literature only | GeneReviews | - | Founder variant in Amish of Somerset County, Pennsylvania - |
| Pathogenic, criteria provided, single submitter | clinical testing | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | Aug 10, 2017 | Variant summary: The BRCA2 c.5073dupA (p.Trp1692Metfs) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., c.5130_5133delTGTA [p.Tyr1710fs). MutationTaster predicts a damaging outcome for this variant. This variant is absent in 119116 control chromosomes (ExAC). The variant has been found in numerous patients/families with breast and/or ovarian cancer, including a confirmed de novo breast cancer case (Marshall_Clin Genet_2009). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 28, 2024 | This sequence change creates a premature translational stop signal (p.Trp1692Metfs*3) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer, pancreatic cancer, and Fanconi anemia (PMID: 10923033, 11179017, 14559878, 16683254, 22144684, 25479140, 26787237). This variant is also known as 5301insA, 5302insA, and c.5066_5067insA. ClinVar contains an entry for this variant (Variation ID: 37943). For these reasons, this variant has been classified as Pathogenic. - |
| Pathogenic, no assertion criteria provided | research | Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto | Jan 31, 2014 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. | Mar 21, 2023 | - - |
Hereditary cancer-predisposing syndrome Pathogenic:3
| Pathogenic, criteria provided, single submitter | curation | Sema4, Sema4 | Dec 01, 2021 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 29, 2021 | The c.5073dupA pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a duplication of A at nucleotide position 5073, causing a translational frameshift with a predicted alternate stop codon (p.W1692Mfs*3). This mutation has been described in breast and ovarian cancer families of various ethnicities (Risch HA et al. Am. J. Hum. Genet. 2001 Mar;68:700-10; Suter NM et al. Cancer Epidemiol. Biomarkers Prev. 2004 Feb;13:181-9; Marshall M et al. Clin. Genet. 2009 Nov;76:427-30; de Juan I et al. Fam. Cancer. 2015 Dec;14:505-13; Hasmad HN et al. Gynecol. Oncol. 2016 May;141:318-22; Sandoval RL et al. PLoS One. 2021 Mar;16:e0247363). This alteration has also been identified in a pancreatic cancer patient (Grant RC et al. Gastroenterology. 2015 Mar;148:556-64). Of note, this alteration is also designated as 5301insA, 5302insA, and c.5066_5067insA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. - |
| Pathogenic, criteria provided, single submitter | clinical testing | Color Diagnostics, LLC DBA Color Health | Nov 28, 2022 | This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant is also known as 5301insA, 5302insA, c.5066_5067insA and c.5073insA in the literature. This variant has been detected in over 20 individuals and families affected with breast, ovarian and fallopian tube cancer (PMID: 11179017, 11938448, 12181777, 14973102, 15131399, 16683254, 18819001, 19052777, 19796187, 21324516, 21465317, 23977390, 24333842, 24728189, 26026974, 26787237, 27741520, 28486781, 32022259, 33471991), an individual affected with pancreatic cancer (PMID: 25479140) and 2 unaffected carriers (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_001899). This variant also has been observed with another pathogenic BRCA2 mutation in an individual affected with the recessive disease Fanconi anemia (PMID: 14559878). This variant has been identified in 4/230778 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. - |
Familial cancer of breast Pathogenic:3
| Pathogenic, criteria provided, single submitter | clinical testing | MGZ Medical Genetics Center | Mar 16, 2022 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Genetics and Molecular Pathology, SA Pathology | Nov 24, 2021 | The BRCA2 c.5073dupA variant is classified as Pathogenic (PVS1, PM2) This BRCA2 c.5073dupA variant is located in exon 11/27 and is predicted to cause a shift in the reading frame at codon 1692 (PVS1). The variant is rare in population databases (PM2). The variant has been reported in dbSNP (rs80359479) and has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 37943). - |
| Pathogenic, criteria provided, single submitter | clinical testing | Baylor Genetics | Feb 28, 2024 | - - |
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:2
| Pathogenic, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | May 31, 2022 | - - |
| Pathogenic, criteria provided, single submitter | clinical testing | Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili | Nov 13, 2023 | - - |
Breast-ovarian cancer, familial, susceptibility to, 1 Pathogenic:1
| Pathogenic, criteria provided, single submitter | clinical testing | Department of Molecular Diagnostics, Institute of Oncology Ljubljana | Apr 02, 2020 | - - |
Breast and/or ovarian cancer Pathogenic:1
| Pathogenic, criteria provided, single submitter | clinical testing | CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario | Jan 28, 2022 | - - |
Carcinoma of pancreas Pathogenic:1
| Pathogenic, no assertion criteria provided | case-control | CZECANCA consortium | Mar 04, 2021 | - - |
BRCA2-related cancer predisposition Pathogenic:1
| Pathogenic, criteria provided, single submitter | clinical testing | All of Us Research Program, National Institutes of Health | Sep 18, 2024 | This variant inserts 1 nucleotide in exon 11 of the BRCA2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant is also known as 5301insA, 5302insA, c.5066_5067insA and c.5073insA in the literature. This variant has been detected in over 20 individuals and families affected with breast, ovarian and fallopian tube cancer (PMID: 11179017, 11938448, 12181777, 14973102, 15131399, 16683254, 18819001, 19052777, 19796187, 21324516, 21465317, 23977390, 24333842, 24728189, 26026974, 26787237, 27741520, 28486781, 32022259, 33471991), an individual affected with pancreatic cancer (PMID: 25479140) and 2 unaffected carriers (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_001899). This variant also has been observed with another pathogenic BRCA2 mutation in an individual affected with the recessive disease Fanconi anemia (PMID: 14559878). This variant has been identified in 4/230778 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. - |
Gastric cancer Pathogenic:1
| Pathogenic, no assertion criteria provided | research | Laboratory for Genotyping Development, RIKEN | Jul 01, 2021 | - - |
Hereditary breast ovarian cancer syndrome;C1838457:Fanconi anemia complementation group D1 Other:1
| not provided, no classification provided | phenotyping only | GenomeConnect - Invitae Patient Insights Network | - | Variant interpreted as Pathogenic and reported on 07-02-2018 by Invitae. 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. - |
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