NM_003000.3(SDHB):c.537dup (p.Leu180fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 26, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000657477.1

Allele description [Variation Report for NM_003000.3(SDHB):c.537dup (p.Leu180fs)]

NM_003000.3(SDHB):c.537dup (p.Leu180fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_003000.3(SDHB):c.537dup (p.Leu180fs)

HGVS:

NC_000001.11:g.17027754dup
NG_012340.1:g.31419dup
NM_003000.3:c.537dupMANE SELECT
NP_002991.2:p.Leu180fs
LRG_316:g.31419dup
NC_000001.10:g.17354246_17354247insT
NC_000001.10:g.17354249dup
NM_003000.2:c.537dupA

Protein change:

L180fs

Links:

dbSNP: rs1553177669

NCBI 1000 Genomes Browser:

rs1553177669

Molecular consequence:

NM_003000.3:c.537dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000779212	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Feb 26, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000779212

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Feb 26, 2018)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV000779212.2

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

Description

This duplication of one nucleotide in SDHB is denoted c.537dupA at the cDNA level and p.Leu180ThrfsX14 (L180TfsX14) at the protein level. The normal sequence, with the base that is duplicated in brackets, is AGAA[dupA]CTGG. The duplication causes a frameshift which changes a Leucine to a Threonine at codon 180, and creates a premature stop codon at position 14 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

#	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: Sep 29, 2024

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