NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 19, 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:: RCV000198901.1

Allele description

NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs)

Gene:

SURF1:SURF1 cytochrome c oxidase assembly factor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.2

Genomic location:

Preferred name:

NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs)

HGVS:

NC_000009.12:g.133352101_133352102delCT
NM_003172.2:c.792_793delAG
NM_003172.3:c.792_793delAG
NP_003163.1:p.Arg264Serfs
NC_000009.11:g.136218956_136218957delCT
p.R264SfsX27

Links:

dbSNP: rs782490558

NCBI 1000 Genomes Browser:

rs782490558

Molecular consequence:

NM_003172.3:c.792_793delAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252355	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000252355

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 19, 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, SCV000252355.6

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

Description

The c.792_793delAG variant in the SURF1 gene has been reported previously in a patient with Leigh syndrome who also harbored a second SURF1 variant (Teraoka et al., 1999) and has been reported in the homozygous state in multiple individuals with Leigh syndrome (Wedatilake et al, 2013; Bindu et al., 2016). The c.792_793delAG variant causes a frameshift starting with codon Arginine 264, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Arg264SerfsX27. This variant is predicted to cause loss of normal protein function through protein truncation. The c.792_793delAG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.792_793delAG as a pathogenic 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: Jun 9, 2019

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