NM_003172.4(SURF1):c.796dup (p.Thr266fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 24, 2021
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:: RCV000627562.2

Allele description [Variation Report for NM_003172.4(SURF1):c.796dup (p.Thr266fs)]

NM_003172.4(SURF1):c.796dup (p.Thr266fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

9q34.2

Genomic location:

Preferred name:

NM_003172.4(SURF1):c.796dup (p.Thr266fs)

HGVS:

NC_000009.12:g.133352098dup
NG_008477.1:g.9409dup
NM_001280787.1:c.469dup
NM_003172.4:c.796dupMANE SELECT
NP_001267716.1:p.Thr157fs
NP_003163.1:p.Thr266fs
NC_000009.11:g.136218953dup
NM_003172.2:c.796dup
NM_003172.2:c.796dupA

Protein change:

T157fs

Links:

dbSNP: rs1554768236

NCBI 1000 Genomes Browser:

rs1554768236

Molecular consequence:

NM_001280787.1:c.469dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003172.4:c.796dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000748562	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Feb 24, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000748562

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Feb 24, 2021)

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, SCV000748562.4

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

Description

Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 35 amino acids are lost and replaced with 25 incorrect amino acids; Not observed in large population cohorts (Lek et al., 2016)

#	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: Apr 23, 2022

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