NM_018224.4(COA1):c.419G>A (p.Gly140Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 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:: RCV004083291.1

Allele description [Variation Report for NM_018224.4(COA1):c.419G>A (p.Gly140Asp)]

NM_018224.4(COA1):c.419G>A (p.Gly140Asp)

Gene:

COA1:cytochrome c oxidase assembly factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

Preferred name:

NM_018224.4(COA1):c.419G>A (p.Gly140Asp)

HGVS:

NC_000007.14:g.43639604C>T
NM_001321197.2:c.419G>A
NM_001321198.2:c.419G>A
NM_001321199.2:c.419G>A
NM_001321200.2:c.419G>A
NM_001321201.2:c.383G>A
NM_001350924.2:c.419G>A
NM_001350925.2:c.419G>A
NM_001350926.2:c.419G>A
NM_001350927.2:c.419G>A
NM_001350928.2:c.401G>A
NM_001371307.1:c.419G>A
NM_001371308.1:c.419G>A
NM_001371309.1:c.419G>A
NM_001371310.1:c.419G>A
NM_001371311.1:c.419G>A
NM_001371312.1:c.419G>A
NM_001371313.1:c.419G>A
NM_001371314.1:c.419G>A
NM_001371315.1:c.419G>A
NM_001371316.1:c.419G>A
NM_001371317.1:c.401G>A
NM_001371318.1:c.407G>A
NM_018224.4:c.419G>AMANE SELECT
NP_001308126.1:p.Gly140Asp
NP_001308127.1:p.Gly140Asp
NP_001308128.1:p.Gly140Asp
NP_001308129.1:p.Gly140Asp
NP_001308130.1:p.Gly128Asp
NP_001337853.1:p.Gly140Asp
NP_001337854.1:p.Gly140Asp
NP_001337855.1:p.Gly140Asp
NP_001337856.1:p.Gly140Asp
NP_001337857.1:p.Gly134Asp
NP_001358236.1:p.Gly140Asp
NP_001358237.1:p.Gly140Asp
NP_001358238.1:p.Gly140Asp
NP_001358239.1:p.Gly140Asp
NP_001358240.1:p.Gly140Asp
NP_001358241.1:p.Gly140Asp
NP_001358242.1:p.Gly140Asp
NP_001358243.1:p.Gly140Asp
NP_001358244.1:p.Gly140Asp
NP_001358245.1:p.Gly140Asp
NP_001358246.1:p.Gly134Asp
NP_001358247.1:p.Gly136Asp
NP_060694.2:p.Gly140Asp
NC_000007.13:g.43679203C>T
NM_018224.2:c.419G>A
NR_047701.2:n.617G>A
NR_135580.2:n.653G>A
NR_135581.2:n.653G>A
NR_135582.2:n.552G>A
NR_135583.2:n.552G>A
NR_146940.2:n.403G>A
NR_146941.2:n.667G>A
NR_146942.2:n.617G>A
NR_146943.2:n.545G>A
NR_146944.2:n.617G>A
NR_146945.2:n.552G>A
NR_163914.1:n.617G>A
NR_163915.1:n.557G>A
NR_163916.1:n.617G>A
NR_163917.1:n.617G>A
NR_163918.1:n.602G>A
NR_163919.1:n.658G>A

Protein change:

G128D

Molecular consequence:

NM_001321197.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321198.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321199.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321200.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321201.2:c.383G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350924.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350925.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350926.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350927.2:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350928.2:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371307.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371308.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371309.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371310.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371311.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371312.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371313.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371314.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371315.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371316.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371317.1:c.401G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001371318.1:c.407G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018224.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_135580.2:n.653G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135581.2:n.653G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135582.2:n.552G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135583.2:n.552G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146940.2:n.403G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146941.2:n.667G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146942.2:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146943.2:n.545G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146944.2:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146945.2:n.552G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163914.1:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163915.1:n.557G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163916.1:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163917.1:n.617G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163918.1:n.602G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_163919.1:n.658G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003536350	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003536350

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 23, 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, SCV003536350.2

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

Description

The c.419G>A (p.G140D) alteration is located in exon 6 (coding exon 5) of the COA1 gene. This alteration results from a G to A substitution at nucleotide position 419, causing the glycine (G) at amino acid position 140 to be replaced by an aspartic acid (D). 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: May 19, 2024

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