NM_003000.3(SDHB):c.553G>T (p.Glu185Ter) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:: Pathogenic (1 submission)
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:: RCV000505367.1

Allele description [Variation Report for NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)]

NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)

HGVS:

NC_000001.11:g.17024062C>A
NG_012340.1:g.35109G>T
NM_003000.3:c.553G>TMANE SELECT
NP_002991.2:p.Glu185Ter
NP_002991.2:p.Glu185Ter
LRG_316t1:c.553G>T
LRG_316:g.35109G>T
LRG_316p1:p.Glu185Ter
NC_000001.10:g.17350557C>A
NM_003000.2:c.553G>T

Protein change:

E185*

Links:

dbSNP: rs1045881797

NCBI 1000 Genomes Browser:

rs1045881797

Molecular consequence:

NM_003000.3:c.553G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary pheochromocytoma-paraganglioma
Synonyms:: Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Identifiers:: MONDO: MONDO:0017366; MedGen: C1708353

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000599514	Section on Medical Neuroendocrinolgy, National Institutes of Health	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000599514

Section on Medical Neuroendocrinolgy, National Institutes of Health

no assertion criteria provided

Pathogenic

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 Section on Medical Neuroendocrinolgy, National Institutes of Health, SCV000599514.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided
2	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
2	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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