NM_002495.4(NDUFS4):c.12G>C (p.Val4=) AND not specified

Germline classification:: Likely benign (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000117713.7

Allele description [Variation Report for NM_002495.4(NDUFS4):c.12G>C (p.Val4=)]

NM_002495.4(NDUFS4):c.12G>C (p.Val4=)

Genes:

LOC129993885:ATAC-STARR-seq lymphoblastoid active region 22547 [Gene]
NDUFS4:NADH:ubiquinone oxidoreductase subunit S4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

NM_002495.4(NDUFS4):c.12G>C (p.Val4=)

HGVS:

NC_000005.10:g.53560674G>C
NG_008200.1:g.5040G>C
NM_001318051.2:c.12G>C
NM_002495.4:c.12G>CMANE SELECT
NP_001304980.1:p.Val4=
NP_002486.1:p.Val4=
NC_000005.9:g.52856504G>C
NM_002495.2:c.12G>C
NR_134473.2:n.36G>C
NR_134474.2:n.36G>C
NR_134475.2:n.36G>C

Links:

dbSNP: rs2279516

NCBI 1000 Genomes Browser:

rs2279516

Molecular consequence:

NR_134473.2:n.36G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134474.2:n.36G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134475.2:n.36G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001318051.2:c.12G>C - synonymous variant - [Sequence Ontology: SO:0001819]
NM_002495.4:c.12G>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000151960	Genetic Services Laboratory, University of Chicago	no assertion criteria provided	Likely benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000151960

Genetic Services Laboratory, University of Chicago

no assertion criteria provided

Likely benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000151960.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

Last Updated: Sep 29, 2024

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