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NM_017849.4(TMEM127):c.245-2A>G

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 10, 2020
Accession:
VCV001067852.1
Variation ID:
1067852
Description:
single nucleotide variant
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NM_017849.4(TMEM127):c.245-2A>G

Allele ID
1055269
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q11.2
Genomic location
2: 96254999 (GRCh38) GRCh38 UCSC
2: 96920737 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.96920737T>C
NC_000002.12:g.96254999T>C
NM_017849.4:c.245-2A>G MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:96254998:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2020 RCV001379227.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM127 - - GRCh38
GRCh37
473 531

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Allele origin: germline
Invitae
Accession: SCV001576988.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 2 of the TMEM127 gene. It is expected to disrupt RNA splicing and likely results … (more)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. Yao L JAMA 2010 PMID: 21156949
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Qin Y Nature genetics 2010 PMID: 20154675
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Record last updated May 13, 2021