NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 25, 2016
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:: RCV000346231.1

Allele description [Variation Report for NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)]

NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)

Gene:

NDUFB11:NADH:ubiquinone oxidoreductase subunit B11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.3

Genomic location:

Preferred name:

NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)

HGVS:

NC_000023.11:g.47142690G>A
NG_012548.1:g.2459G>A
NG_052579.1:g.7521C>T
NM_001135998.3:c.262C>TMANE SELECT
NM_019056.7:c.262C>T
NP_001129470.1:p.Arg88Ter
NP_061929.2:p.Arg88Ter
NP_061929.2:p.Arg88Ter
NC_000023.10:g.47002089G>A
NM_019056.6:c.262C>T

Protein change:

R88*; ARG88TER

Links:

OMIM: 300403.0001; dbSNP: rs786205225

NCBI 1000 Genomes Browser:

rs786205225

Molecular consequence:

NM_001135998.3:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_019056.7:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000330011	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000330011

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 25, 2016)

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, SCV000330011.5

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

Description

The R88X variant in the NDUFB11 gene has been reported previously as a de novo change in twofemale patients, one with MLS syndrome and histiocytoid cardiomyopathy in whom R88X wasidentified in the mosaic state in lymphocytes (van Rahden et al., 2015), and another with histiocytoidcardiomyopathy who lacked diagnostic features of MLS (Rea et al., 2016a; Rea et al., 2016b). Thisvariant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. The R88X variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. We interpret R88X as a pathogenicvariant.

#	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 1, 2024

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