NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 1, 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:: RCV002550259.2

Allele description [Variation Report for NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)]

NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)

Genes:

ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
CFAP92:cilia and flagella associated protein 92 (putative) [Gene - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)

HGVS:

NC_000003.12:g.128910098_128910116dup
NG_017064.1:g.35609_35627dup
NM_001348520.2:c.*183_*201dup
NM_001348521.2:c.*183_*201dup
NM_001394090.1:c.*183_*201dupMANE SELECT
NM_014049.4:c.1641_1659dupGTCGCGGGCCAGCCGCTCC
NM_014049.5:c.1641_1659dupMANE SELECT
NP_054768.2:p.Ile554fs
NC_000003.11:g.128628940_128628941insGTCGCGGGCCAGCCGCTCC
NC_000003.11:g.128628941_128628959dup
NM_014049.5:c.1641_1659dup
NR_033426.2:n.1889_1907dup

Protein change:

I554fs

Links:

dbSNP: rs755346624

NCBI 1000 Genomes Browser:

rs755346624

Molecular consequence:

NM_001348520.2:c.*183_*201dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001348521.2:c.*183_*201dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001394090.1:c.*183_*201dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_014049.5:c.1641_1659dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_033426.2:n.1889_1907dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003572897	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 1, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003572897

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 1, 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, SCV003572897.2

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

Description

Not expected to trigger nonsense-mediated mRNA decay 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 1, 2024

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