NM_002493.5(NDUFB6):c.316C>T (p.Pro106Ser) AND Inborn genetic diseases

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2022
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:: RCV002951101.1

Allele description

NM_002493.5(NDUFB6):c.316C>T (p.Pro106Ser)

Genes:

NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
SMIM27:small integral membrane protein 27 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p21.1

Genomic location:

Preferred name:

NM_002493.5(NDUFB6):c.316C>T (p.Pro106Ser)

HGVS:

NC_000009.12:g.32558912G>A
NG_011511.1:g.19273C>T
NM_001199987.2:c.223C>T
NM_002493.5:c.316C>TMANE SELECT
NM_182739.3:c.274-4968C>T
NP_001186916.1:p.Pro75Ser
NP_002484.1:p.Pro106Ser
NC_000009.11:g.32558910G>A
NM_002493.4:c.316C>T

Protein change:

P106S

Molecular consequence:

NM_182739.3:c.274-4968C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001199987.2:c.223C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002493.5:c.316C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003677781	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Nov 17, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003677781

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Nov 17, 2022)

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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003677781.1

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

Description

The c.316C>T (p.P106S) alteration is located in exon 3 (coding exon 3) of the NDUFB6 gene. This alteration results from a C to T substitution at nucleotide position 316, causing the proline (P) at amino acid position 106 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 13, 2023

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