NM_021074.5(NDUFV2):c.553A>G (p.Met185Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 8, 2017
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:: RCV000200485.3

Allele description [Variation Report for NM_021074.5(NDUFV2):c.553A>G (p.Met185Val)]

NM_021074.5(NDUFV2):c.553A>G (p.Met185Val)

Genes:

NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
NDUFV2-AS1:NDUFV2 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.22

Genomic location:

Preferred name:

NM_021074.5(NDUFV2):c.553A>G (p.Met185Val)

Other names:

p.M185V:ATG>GTG

HGVS:

NC_000018.10:g.9124957A>G
NG_013355.1:g.27328A>G
NM_021074.5:c.553A>GMANE SELECT
NP_066552.2:p.Met185Val
NC_000018.9:g.9124955A>G
NM_021074.3:c.553A>G

Protein change:

M185V

Links:

dbSNP: rs377456305

NCBI 1000 Genomes Browser:

rs377456305

Molecular consequence:

NM_021074.5:c.553A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000251953	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Sep 8, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000251953

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Sep 8, 2017)

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, SCV000251953.13

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

Description

The M185V variant of unknown significance in the NDUFV2 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The M185V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

#	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: Mar 11, 2023

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