NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) AND Pheochromocytoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 1, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000203529.1

Allele description [Variation Report for NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)]

NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)

Gene:

SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)

HGVS:

NC_000001.11:g.17044822_17044830del
NG_012340.1:g.14341_14349del
NM_003000.3:c.131_139delMANE SELECT
NP_002991.2:p.Ile44_Trp47delinsArg
LRG_316:g.14341_14349del
NC_000001.10:g.17371317_17371325del
NM_003000.2:c.131_139delTCTATCGAT

Links:

dbSNP: rs864321639

NCBI 1000 Genomes Browser:

rs864321639

Molecular consequence:

NM_003000.3:c.131_139del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Pheochromocytoma
Synonyms:: Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258638	Endocrinology Clinic, Seth G.S. Medical College - Spectrum of Germline Mutations in Indian Patients with Pheochromocytoma/ Paraganglioma (PHEO/PGL)	no assertion criteria provided	Likely pathogenic (Dec 1, 2015)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258638

Endocrinology Clinic, Seth G.S. Medical College - Spectrum of Germline Mutations in Indian Patients with Pheochromocytoma/ Paraganglioma (PHEO/PGL)

no assertion criteria provided

Likely pathogenic
(Dec 1, 2015)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Endocrinology Clinic, Seth G.S. Medical College - Spectrum of Germline Mutations in Indian Patients with Pheochromocytoma/ Paraganglioma (PHEO/PGL), SCV000258638.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 17, 2022

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