NM_003172.4(SURF1):c.681G>A (p.Trp227Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 6, 2015
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:: RCV000440906.1

Allele description [Variation Report for NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)]

NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.2

Genomic location:

Preferred name:

NM_003172.4(SURF1):c.681G>A (p.Trp227Ter)

HGVS:

NC_000009.12:g.133352516C>T
NG_008477.1:g.8991G>A
NM_001280787.1:c.354G>A
NM_003172.4:c.681G>AMANE SELECT
NP_001267716.1:p.Trp118Ter
NP_003163.1:p.Trp227Ter
NC_000009.11:g.136219371C>T
NM_003172.2:c.681G>A

Protein change:

W118*

Links:

dbSNP: rs1057520688

NCBI 1000 Genomes Browser:

rs1057520688

Molecular consequence:

NM_001280787.1:c.354G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_003172.4:c.681G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000516992	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (May 6, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000516992

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(May 6, 2015)

germline

clinical testing

Citation Link

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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, SCV000516992.4

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

Description

The W227X nonsense variant in the SURF1 gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. Although this variant has not beenreported previously to our knowledge, it is expected to be 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: Sep 29, 2024

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