ClinVar Genomic variation as it relates to human health
NM_006949.4(STXBP2):c.1247-1G>C
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_006949.4(STXBP2):c.1247-1G>C
Variation ID: 330555 Accession: VCV000330555.50
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19p13.2 19: 7645196 (GRCh38) [ NCBI UCSC ] 19: 7710082 (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 Dec 6, 2016 May 19, 2024 Mar 11, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_006949.4:c.1247-1G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NM_001127396.3:c.1238-1G>C splice acceptor NM_001272034.2:c.1280-1G>C splice acceptor NM_001414484.1:c.1151-1G>C splice acceptor NM_006949.2:c.1247-1G>C NC_000019.10:g.7645196G>C NC_000019.9:g.7710082G>C NG_016709.1:g.13092G>C LRG_165:g.13092G>C - Protein change
- Other names
- IVS14AS, G-C, -1
- Canonical SPDI
- NC_000019.10:7645195:G:C
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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.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00018
The Genome Aggregation Database (gnomAD), exomes 0.00020
The Genome Aggregation Database (gnomAD) 0.00024
Exome Aggregation Consortium (ExAC) 0.00033
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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STXBP2 | - | - |
GRCh38 GRCh37 |
1062 | 1175 |
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 (2) |
criteria provided, multiple submitters, no conflicts
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Jul 1, 2022 | RCV000351372.7 | |
Pathogenic (10) |
criteria provided, multiple submitters, no conflicts
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Mar 11, 2024 | RCV000700702.21 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Feb 1, 2024 | RCV001267959.21 | |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE
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Pathogenic (1) |
no assertion criteria provided
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Dec 1, 2009 | RCV001613072.3 |
Pathogenic (1) |
criteria provided, single submitter
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Jul 10, 2020 | RCV002263594.4 |
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 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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Familial Hemophagocytic Lymphohistiocytosis
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000415685.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
The c.1247-1G>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. Across a selection … (more)
The c.1247-1G>C variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. Across a selection of available literature, the c.1247-1G>C variant has been identified in a homozygous state in 11 familial hemophagocytic lymphohistiocytosis patients, in a compound heterozygous state in at least 11 patients, and in a heterozygous state in 9 unaffected family members (zur Stadt et al. 2009; Cote et al. 2009; Rohr et al. 2010; Meeths et al. 2010; Pagel et al. 2012). The c.1247-1G>C variant was absent from 210 controls but is reported at a frequency of 0.00067 in the European (Non-Finnish) population of the Exome Aggregation Consortium. RT-PCR analysis showed that the c.1247-1G>C variant disrupts splicing of the STXBP2 gene, and in vitro functional analysis demonstrated that the variant disrupts binding to syntaxin 11, which is also associated with familial hemophagocytic lymphohistiocytosis (zur Stadt et al. 2009; Pagel et al. 2012). Analysis of peripheral blood mononuclear cells from patients carrying the c.1247-1G>C variant had reduced NK-cell cytotoxicity, NK-cell degranulation, and CTL cytotoxicity compared to control cells (Rohr et al. 2010). Based on the collective evidence and the potential impact of splice acceptor variants, the c.1247-1G>C variant is classified as pathogenic for familial hemophagocytic lymphohistiocytosis. (less)
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Pathogenic
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001140966.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis type 5
Affected status: yes
Allele origin:
germline
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Centogene AG - the Rare Disease Company
Accession: SCV001424501.1
First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020 |
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001446490.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Hepatosplenomegaly (present)
Sex: male
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Pathogenic
(Jun 28, 2021)
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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: SCV002027908.2
First in ClinVar: Nov 29, 2021 Last updated: Mar 04, 2023 |
Comment:
Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: … (more)
Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28936583, 16199547, 29777376, 28983403, 23687090, 20823128, 19884660, 25491289, 25525159, 19804848, 26320718, 27577878, 29077208, 30697212, 22451424, 20558610, 31865540, 31980526, 31589614, 33083013, 33746956, 32542393, 33225392, 27535533) (less)
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Pathogenic
(Jan 29, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000829469.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 20, 2024 |
Comment:
This sequence change affects an acceptor splice site in intron 14 of the STXBP2 gene. RNA analysis indicates that disruption of this splice site induces … (more)
This sequence change affects an acceptor splice site in intron 14 of the STXBP2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in the loss of part of exon 15 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is present in population databases (rs140148806, gnomAD 0.04%). Disruption of this splice site has been observed in individuals with hemophagocytic lymphohistiocytosis (PMID: 19804848, 19884660, 20558610, 20823128, 22451424, 23687090, 27577878). ClinVar contains an entry for this variant (Variation ID: 330555). Studies have shown that disruption of this splice site results in the activation of a cryptic splice site in intron 15 (PMID: 19884660). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 01, 2024)
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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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002498413.13
First in ClinVar: Apr 08, 2022 Last updated: May 12, 2024 |
Comment:
STXBP2: PM3:Very Strong, PVS1, PM2, PP4:Moderate, PS3:Moderate
Number of individuals with the variant: 2
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Pathogenic
(Jul 10, 2020)
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criteria provided, single submitter
Method: clinical testing
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Autoinflammatory syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002542981.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
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Pathogenic
(Jul 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002570833.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
Variant summary: STXBP2 c.1247-1G>C is located in a canonical splice-site in intron 14 and is predicted to affect mRNA splicing resulting in a significantly altered … (more)
Variant summary: STXBP2 c.1247-1G>C is located in a canonical splice-site in intron 14 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 3' acceptor site. Experimental evidence has shown that the variant results in the partial deletion of exon 15 and the insertion of 56bp from the intronic sequence, leading to a frameshift after codon 416 and a protein of almost the same size as wild-type STXBP2 (p.Val417LeufsX126)(e.g. zur Stadt_2009, Cote_2009). The variant allele was found at a frequency of 0.0002 in 168500 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in STXBP2 causing Familial Hemophagocytic Lymphohistiocytosis (0.0002 vs 0.0022). c.1247-1G>C has been reported in the literature in many homozygous and compound heterozygous individuals affected with Familial Hemophagocytic Lymphohistiocytosis, predominately of European ancestry (e.g. zur Stadt_2009, Cote_2009, Rohr_2010, Pagel_2012, Gadoury-Levesque_2020). These data indicate that the variant is very likely to be associated with disease. Seven assessments for this variant have been submitted to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(-)
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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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Laboratoire de Génétique Moléculaire, CHU Bordeaux
Accession: SCV002568849.1
First in ClinVar: Sep 03, 2022 Last updated: Sep 03, 2022 |
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Pathogenic
(Jul 12, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002786446.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV004013487.1
First in ClinVar: Jul 22, 2023 Last updated: Jul 22, 2023 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.020%). The variant is predicted to alter splicing … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.020%). The variant is predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000330555 / PMID: 19804848). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Combined immunodeficiency (present) , Pancytopenia (present) , Bilateral tonic-clonic seizure (present)
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Pathogenic
(Feb 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004175803.1
First in ClinVar: Dec 17, 2023 Last updated: Dec 17, 2023 |
Comment:
The splice acceptor variant c.406-1G>A in the STXBP2 gene has been reported in homozygous and heterozygous state in individuals affected with familial hemophagocytic lymphohistiocytosis type … (more)
The splice acceptor variant c.406-1G>A in the STXBP2 gene has been reported in homozygous and heterozygous state in individuals affected with familial hemophagocytic lymphohistiocytosis type 5 (Pagel et al., 2012; Gadoury-Levesque et al., 2020). The variant has 0.01% allele frequency in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic (Multiple submissions). This sequence change affects an acceptor splice site in intron 14 of the STXBP2 gene. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004205624.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Oct 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003819776.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 11, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: yes
Allele origin:
germline
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Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV005043912.1
First in ClinVar: May 19, 2024 Last updated: May 19, 2024 |
Comment:
PVS1, PM3_Strong
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932509.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001958885.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001974617.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Pathogenic
(Dec 01, 2009)
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no assertion criteria provided
Method: literature only
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HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000028517.5
First in ClinVar: Apr 04, 2013 Last updated: Nov 20, 2021 |
Comment on evidence:
In 2 unrelated probands of Turkish and German origin, who had onset of familial hemophagocytic lymphohistiocytosis without microvillus inclusion disease (FHL5; 613101), at 28 and … (more)
In 2 unrelated probands of Turkish and German origin, who had onset of familial hemophagocytic lymphohistiocytosis without microvillus inclusion disease (FHL5; 613101), at 28 and 44 months, respectively, zur Stadt et al. (2009) identified homozygosity for a G-to-C transversion at the splice acceptor site in intron 14 of the STXBP2 gene (1247-1G-C). Analysis of RNA from the Turkish patient revealed a deletion of exon 15, resulting in a frameshift and 126 new codons, in about 95% of clones, as well as 2 minor in-frame and 4 frameshift products. Analysis of CD107 degranulation in this patient revealed that activity of NK and cytotoxic T cells was markedly reduced or absent. The German patient underwent matched unrelated donor hematopoietic stem cell transplantation (HSCT) at 16 years of age but later died. The Turkish patient, who did not undergo HSCT, had recurrent reactivations that were responsive to steroids. In another 3 unrelated FHL patients, all with onset of disease after 1 year of age, the splice site mutation was found in compound heterozygosity with a missense mutation (601717.0004) and 2 different 1-bp deletions (601717.0005 and 601717.0006), respectively. In 3 probands with FHL5 from consanguineous families of Turkish, Palestinian Arab, and Iranian origin, respectively, Cote et al. (2009) identified homozygosity for the 1247-1G-C mutation in the STXBP2 gene. Sequencing of RT-PCR products revealed that rather than leading to a premature stop codon, the splice mutation resulted in exchange of the first 17 amino acids of exon 15 for 19 new amino acids from the intronic sequence, in-frame with the last 20 amino acids of wildtype exon 15. The parents were all heterozygous for the mutated STXBP2 allele, which was not found in 80 French, 50 Turkish, or 80 Arab or Iranian controls. Lymphoblasts from the Turkish and the Iranian patients showed markedly decreased STXBP2 protein expression. In the Turkish patient, his homozygous brother who remained asymptomatic at 2.6 years of age, and the Iranian patient, cultured NK cells exhibited impaired cytotoxic granule exocytosis; the defect was overcome by ectopic expression of wildtype STXBP2. The 3 symptomatic probands were diagnosed between 8 years and 12.5 years of age. The Iranian patient died at 20 years of age after HSCT and had a sister who died at age 22 months with a retrospective diagnosis of FHL5. Pagel et al. (2012) identified the c.1247-1G-C mutation in 12 patients with FHL5; 5 patients were homozygous and 7 were compound heterozygous with another pathogenic STXBP2 variant. Some of the patients had previously been reported. Analysis of patient cells identified a predominant abnormal transcript, predicted to result in premature termination (Val417LeufsTer126). In vitro studies indicated that this truncated protein was unable to interact with STX11 (605014). Defective NK-cell degranulation improved after IL2 stimulation and CTL cytotoxicity was normal in those patients tested, suggesting that the exon 15 splice site mutation may have residual function. Pagel et al. (2012) observed that patients carrying the exon 15 mutation on at least 1 allele had slightly later disease onset, a more protracted course, and lack of microvillus inclusion disease (MVID) compared to patients without an exon 15 splice site mutation. (less)
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not provided
(-)
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no classification provided
Method: literature only
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Familial hemophagocytic lymphohistiocytosis 5
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV001976575.2
First in ClinVar: Oct 08, 2021 Last updated: Oct 01, 2022 |
Comment:
Hypomorphic allele [Meeths et al 2010]
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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 and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. | Gadoury-Levesque V | Blood advances | 2020 | PMID: 32542393 |
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. | Stray-Pedersen A | The Journal of allergy and clinical immunology | 2017 | PMID: 27577878 |
Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. | Zhao XW | Blood | 2013 | PMID: 23687090 |
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). | Pagel J | Blood | 2012 | PMID: 22451424 |
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. | Rohr J | Haematologica | 2010 | PMID: 20823128 |
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. | Meeths M | Blood | 2010 | PMID: 20558610 |
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. | Côte M | The Journal of clinical investigation | 2009 | PMID: 19884660 |
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. | zur Stadt U | American journal of human genetics | 2009 | PMID: 19804848 |
Text-mined citations for rs140148806 ...
HelpRecord last updated May 27, 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.