ClinVar Genomic variation as it relates to human health
NM_003000.3(SDHB):c.72+1G>T
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_003000.3(SDHB):c.72+1G>T
Variation ID: 142764 Accession: VCV000142764.35
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1p36.13 1: 17053947 (GRCh38) [ NCBI UCSC ] 1: 17380442 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline May 29, 2016 Oct 8, 2024 Dec 11, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_003000.3:c.72+1G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice donor NM_001407361.1:c.72+1G>T splice donor NC_000001.11:g.17053947C>A NC_000001.10:g.17380442C>A NG_012340.1:g.5224G>T NG_162599.1:g.136C>A LRG_316:g.5224G>T LRG_316t1:c.72+1G>T - Protein change
- Other names
- IVS1DS, G-T, +1
- Canonical SPDI
- NC_000001.11:17053946:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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SDHB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1326 | 1444 | |
LOC129929542 | - | - | - |
GRCh38 GRCh38 |
- | 82 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
no assertion criteria provided
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Jan 1, 2008 | RCV000013630.25 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Nov 22, 2021 | RCV000132151.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Aug 15, 2022 | RCV000153923.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 11, 2023 | RCV000232241.11 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Aug 27, 2021 | RCV000505343.7 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 10, 2019 | RCV001001437.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 27, 2023 | RCV003474785.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 30, 2023 | RCV003148657.2 | |
Pathogenic (1) |
no assertion criteria provided
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Jun 21, 2024 | RCV004732698.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jun 10, 2019)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158674.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Comment:
The SDHB c.72+1G>T variant (rs587782703) is reported in the literature in individuals affected with pheochromocytoma (Benn 2006, Timmers 2007, Tsang 2014), paraganglioma (Brouwers 2006), gastrointestinal … (more)
The SDHB c.72+1G>T variant (rs587782703) is reported in the literature in individuals affected with pheochromocytoma (Benn 2006, Timmers 2007, Tsang 2014), paraganglioma (Brouwers 2006), gastrointestinal tumor (Pasini 2008, McWhinney 2008), and renal cell carcinoma (Schrader 2016). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 142764), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 1, which is likely to negatively impact gene function, and functional analyses of patient mRNA shows aberrant splicing (Pasini 2008). Additionally, other variants at this nucleotide (c.72+1G>A, c.72+1G>C) have been reported in individuals with pheochromocytoma or paraganglioma and are considered pathogenic (Burnichon 2009, Ricketts 2010). Based on available information, the c.72+1G>T variant is considered to be pathogenic. References: Benn DE et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab. 2006 Mar;91(3):827-36. Brouwers FM et al. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. J Clin Endocrinol Metab. 2006 Nov;91(11):4505-9. Burnichon N et al. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. McWhinney SR et al. Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med. 2007 Sep 6;357(10):1054-6. Pasini B et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet. 2008 Jan;16(1):79-88. Ricketts CJ et al. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat. 2010 Jan;31(1):41-51. Schrader KA et al. Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. JAMA Oncol. 2016 Jan;2(1):104-11. Timmers HJ et al. Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab. 2007 Mar;92(3):779-86. Tsang VH et al. Overexpression of miR-210 is associated with SDH-related pheochromocytomas, paragangliomas, and gastrointestinal stromal tumours. Endocr Relat Cancer. 2014 May 6;21(3):415-26. (less)
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Pathogenic
(Aug 15, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000279239.13
First in ClinVar: May 29, 2016 Last updated: Mar 04, 2023 |
Comment:
Canonical splice site variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of … (more)
Canonical splice site 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); This variant is associated with the following publications: (PMID: 26916530, 19215943, 21934479, 16912137, 16472267, 19864450, 29204718, 23666964, 25741136, 20418362, 20459544, 18419787, 17200167, 24623741, 16317055, 17667967, 19522823, 28973655, 28374168, 27910947, 26556299, 29909963, 30694796, 29623478, 28748451, 30050099, 31492822, 32581362, 29386252, 33087929, 32741965, 30787465) (less)
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Pathogenic
(Sep 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Gastrointestinal stromal tumor
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004202980.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Aug 22, 2014)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004220334.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
The SDHB c.72+1G>T variant (also known IVS1+1G>T) disrupts a canonical splice-donor site and interferes with normal SDHB mRNA splicing. The frequency of this variant in … (more)
The SDHB c.72+1G>T variant (also known IVS1+1G>T) disrupts a canonical splice-donor site and interferes with normal SDHB mRNA splicing. The frequency of this variant in the general population, 0.000028 (3/108524 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. In the published literature, this variant has been shown to cause aberrant splicing in patient RNA (PMID: 17667967 (2008)), and reported in multiple individuals with PGL-PCC (PMIDs: 33362715 (2020), 31492822 (2020), 30201732 (2018), 16912137 (2006), 16317055 (2006)), gastrointestinal stromal tumor (PMIDs: 17667967 (2008), 17804857 (2007)), and renal cell carcinoma (PMIDs: 35441217 (2022), 26556299 (2016), 20459544 (2010)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Dec 10, 2013)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000203540.7
First in ClinVar: Feb 02, 2015 Last updated: May 29, 2016 |
Number of individuals with the variant: 1
Sex: mixed
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Likely pathogenic
(Jan 26, 2018)
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criteria provided, single submitter
Method: research
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
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Academic Department of Medical Genetics, University of Cambridge
Accession: SCV000992189.1
First in ClinVar: Sep 09, 2019 Last updated: Sep 09, 2019
Comment:
Identified as part of research study of individuals with multiple primary tumours referred for genetic assessment
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Comment:
Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
Clinical Features:
Paraganglioma (present) , Pancreatic adenocarcinoma (present)
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Pathogenic
(Jun 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary pheochromocytoma-paraganglioma
Affected status: unknown
Allele origin:
germline
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St. Jude Molecular Pathology, St. Jude Children's Research Hospital
Accession: SCV001737432.2
First in ClinVar: Jun 19, 2021 Last updated: Jun 26, 2021 |
Comment:
The SDHB c.72+1G>T intronic change results in a G to T substitution at the +1 position of intron 1 of the SDHB gene. This variant … (more)
The SDHB c.72+1G>T intronic change results in a G to T substitution at the +1 position of intron 1 of the SDHB gene. This variant is predicted to result in loss of the native splice donor site and abnormal gene splicing, resulting in nonsense-mediated decay or an abnormal protein product (PVS1). This variant has a maximum subpopulation frequency of 0.0028% in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/variant/1-17380442-C-A?dataset=gnomad_r2_1). This variant has been reported in individuals with pheochromocytoma (PMID: 16317055, 18419787, 23666964, 31492822), paraganglioma (PMID: 16472267, 16912137, 20418362, 29909963, 30050099), gastrointestinal stromal tumor (PMID: 17804857), and renal cell carcinoma (PMID: 20459544, 26556299). This variant is also known as IVS1+1G>T in the literature. In summary, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria: PVS1, PS4, PM2_Supporting. (less)
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Pathogenic
(Aug 27, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary pheochromocytoma-paraganglioma
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001821404.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Comment:
Variant summary: SDHB c.72+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to … (more)
Variant summary: SDHB c.72+1G>T is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5` splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing and indicated that the first part of intron 1 was transcribed with the frameshift resulting in a stop codon in the middle of exon 2, predicting a truncated protein (Pasini_2007). The variant allele was found at a frequency of 1.2e-05 in 242838 control chromosomes (gnomAD). c.72+1G>T has been reported in the literature in multiple individuals affected with Hereditary Paraganglioma-Pheochromocytoma Syndrome (Pasini_2007, Benn_2018, Richter_2019, Dwight_2021). These data indicate that the variant is very likely to be associated with disease. Six ClinVar submitters (evaluation after 2014) cite the variant as pathogenic (n=5) and likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jan 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Paragangliomas 4
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV003836629.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
Comment:
This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an … (more)
This variant is considered pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 23512077, 33362715, 30201732, 28374168]. (less)
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Pathogenic
(Dec 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Gastrointestinal stromal tumor
Paragangliomas 4 Pheochromocytoma
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000287785.10
First in ClinVar: Jul 01, 2016 Last updated: Feb 28, 2024 |
Comment:
This sequence change affects a donor splice site in intron 1 of the SDHB gene. RNA analysis indicates that disruption of this splice site induces … (more)
This sequence change affects a donor splice site in intron 1 of the SDHB gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. 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. Disruption of this splice site has been observed in individuals with clinical features of SDHB-related conditions (PMID: 16317055, 16472267, 16912137, 17667967, 18419787, 20418362, 20459544, 23666964). This variant is also known as IVS1+1G>T. ClinVar contains an entry for this variant (Variation ID: 142764). Studies have shown that disruption of this splice site results in retention of part of intron 1 and introduces a premature termination codon (PMID: 17667967; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000187223.9
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.72+1G>T intronic pathogenic mutation results from a G to T substitution one nucleotide after coding exon 1 of the SDHB gene. This alteration has … (more)
The c.72+1G>T intronic pathogenic mutation results from a G to T substitution one nucleotide after coding exon 1 of the SDHB gene. This alteration has been observed in multiple individuals with a personal and/or family history that is consistent with SDHB-related disease (Ambry internal data; Benn DE et al. J Clin Endocrinol Metab. 2006: 91(3); 827-836; Brouwers FM et al. J Endocrinol Metab. 2006;91(11):4505-9; Timmers HJ et al. J Clin Endocrinol Metab. 2007;92(3): 779-86; Tsang VH et al. Endocr Relat Cancer. 2014 May 6;21(3):415-26; Jochmanova I et al. J. Cancer Res. Clin. Oncol. 2017 Aug;143(8):1421-1435; Pasini B et al. Eur J Hum Genet 2008 Jan;16(1):79-88; McWhinney SR et al. N Engl J Med 2007 Sep;357(10):1054-6; Rattenberry E et al. J Clin Endocrinol Metab 2013 Jul;98(7):E1248-56; Elston MS et al. Intern Med J 2006 Feb;36(2):129-31). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as pathogenic. (less)
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Pathogenic
(Jan 01, 2008)
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no assertion criteria provided
Method: literature only
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PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000033877.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 04, 2016 |
Comment on evidence:
In a mother and son with paraganglioma and gastric stromal sarcoma (606864), McWhinney et al. (2007) identified a germline G-to-T transversion at the splice donor … (more)
In a mother and son with paraganglioma and gastric stromal sarcoma (606864), McWhinney et al. (2007) identified a germline G-to-T transversion at the splice donor site in intron 1 (IVS1DS+1) of the SDHB gene. Pasini et al. (2008) provided additional information on this family with a G-T transversion at position 72+1 in the SDHB gene. The son presented at 37 years of age with melena due to a gastric stromal sarcoma and on further evaluation was found to have a nonfunctioning periaortic ganglioma. Sequencing of a heterozygous aberrant transcript from his WBCs indicated that the first part of intron 1 was transcribed, resulting in a significantly truncated protein with a stop codon in the middle of exon 2. DNA analysis of a tumor sample showed loss of heterozygosity with only the mutant SDHB sequence present. The patient's mother underwent surgery for a pheochromocytoma at 57 years of age, but DNA was not available for analysis. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: research
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Hereditary pheochromocytoma-paraganglioma
Affected status: yes
Allele origin:
germline
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Section on Medical Neuroendocrinolgy, National Institutes of Health
Accession: SCV000599479.1
First in ClinVar: Sep 15, 2017 Last updated: Sep 15, 2017 |
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Pathogenic
(Jun 21, 2024)
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no assertion criteria provided
Method: clinical testing
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SDHB-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV005360863.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The SDHB c.72+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in multiple individuals … (more)
The SDHB c.72+1G>T variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in multiple individuals with pheochromocytoma, paraganglioma, gastrointestinal stromal tumors, and renal cell carcinoma (Benn et al. 2006. PubMed ID: 16317055; Srirangalingam et al. 2008. PubMed ID: 18419787; Pasini et al. 2007. PubMed ID: 17667967; McWhinney et al. 2007. PubMed ID: 17804857; Housley et al. 2010. PubMed ID: 20459544; Schrader et al. 2016. PubMed ID: 26556299 ). This variant is reported in 0.0028% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic/likely pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/142764/). Variants that disrupt the consensus splice donor site in SDHB are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases. | Yngvadottir B | Human molecular genetics | 2022 | PMID: 35441217 |
Functional significance of germline EPAS1 variants. | Dwight T | Endocrine-related cancer | 2021 | PMID: 33300499 |
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. | Ma X | Frontiers in endocrinology | 2020 | PMID: 33362715 |
Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. | Bayley JP | Journal of medical genetics | 2020 | PMID: 31492822 |
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. | Richter S | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30050099 |
Bayesian approach to determining penetrance of pathogenic SDH variants. | Benn DE | Journal of medical genetics | 2018 | PMID: 30201732 |
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. | Whitworth J | American journal of human genetics | 2018 | PMID: 29909963 |
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations. | Jochmanova I | Journal of cancer research and clinical oncology | 2017 | PMID: 28374168 |
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. | Schrader KA | JAMA oncology | 2016 | PMID: 26556299 |
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. | Rattenberry E | The Journal of clinical endocrinology and metabolism | 2013 | PMID: 23666964 |
Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. | Fishbein L | Annals of surgical oncology | 2013 | PMID: 23512077 |
Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene. | Housley SL | Histopathology | 2010 | PMID: 20459544 |
Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl. | Lodish MB | Endocrine-related cancer | 2010 | PMID: 20418362 |
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. | Srirangalingam U | Clinical endocrinology | 2008 | PMID: 18419787 |
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. | Pasini B | European journal of human genetics : EJHG | 2008 | PMID: 17667967 |
Familial gastrointestinal stromal tumors and germ-line mutations. | McWhinney SR | The New England journal of medicine | 2007 | PMID: 17804857 |
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. | Brouwers FM | The Journal of clinical endocrinology and metabolism | 2006 | PMID: 16912137 |
An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years. | Elston MS | Internal medicine journal | 2006 | PMID: 16472267 |
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. | Benn DE | The Journal of clinical endocrinology and metabolism | 2006 | PMID: 16317055 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SDHB | - | - | - | - |
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Text-mined citations for rs587782703 ...
HelpRecord last updated Oct 13, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.