NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 11, 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:: RCV002517200.2

Allele description [Variation Report for NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser)]

NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser)

Gene:

COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q21.23

Genomic location:

Preferred name:

NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser)

Other names:

p.F156S:TTT>TCT

HGVS:

NC_000004.12:g.83279051A>G
NG_015825.1:g.10864T>C
NM_001358921.2:c.317T>CMANE SELECT
NM_015697.9:c.467T>C
NP_001345850.1:p.Phe106Ser
NP_056512.5:p.Phe156Ser
NC_000004.11:g.84200204A>G
NM_015697.7:c.467T>C

Protein change:

F106S

Links:

dbSNP: rs370683088

NCBI 1000 Genomes Browser:

rs370683088

Molecular consequence:

NM_001358921.2:c.317T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_015697.9:c.467T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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Homo sapiens receptor transporter protein 5 (putative) (RTP5), mRNA
Homo sapiens receptor transporter protein 5 (putative) (RTP5), mRNA
gi|1519313314|ref|NM_173821.3|

Nucleotide
Post-traumatic stress disorder
Post-traumatic stress disorder
Streptococcus sp. M143
Streptococcus sp. M143
Reference genome for the Human Microbiome Project

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003722319	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 11, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003722319

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 11, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003722319.2

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

Description

The c.467T>C (p.F156S) alteration is located in exon 2 (coding exon 2) of the COQ2 gene. This alteration results from a T to C substitution at nucleotide position 467, causing the phenylalanine (F) at amino acid position 156 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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