NM_005006.6(NDUFS1):c.860C>G (p.Ser287Cys) AND not specified

delete

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 2013
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:: RCV000200746.1

Allele description

NM_005006.6(NDUFS1):c.860C>G (p.Ser287Cys)

Gene:

NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.3

Genomic location:

Preferred name:

NM_005006.6(NDUFS1):c.860C>G (p.Ser287Cys)

HGVS:

NC_000002.12:g.206144904G>C
NG_009248.1:g.19560C>G
NM_005006.6:c.860C>G
NP_004997.4:p.Ser287Cys
NC_000002.11:g.207009628G>C
NM_005006.5:c.860C>G
p.S287C

Protein change:

S287C

Links:

dbSNP: rs863224096

NCBI 1000 Genomes Browser:

rs863224096

Molecular consequence:

NM_005006.6:c.860C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000251853	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 23, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251853

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 23, 2013)

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, SCV000251853.3

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

Description

p.Ser287Cys (TCT>TGT): c.860 C>G in exon 9 in the NDUFS1 gene (NM_005006.5).The S287C variant in the NDUFS1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. This variant is a semi-conservative amino acid substitution as a neutral polar Serine residue is replaced with a neutral polar Cysteine residue, however gaining a Cysteine may impact disufide bonding. Furthermore, Serine is highly conserved at this position across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In addition, the S287C variant was not observed in approximately 6,500 individuals 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 S287C as a variant of unknown significance. This variant has been observed to be maternally inherited. The variant is found in NDUFS1 panel(s).

#	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: Jan 23, 2017

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