NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 20, 2016
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:: RCV000185759.2

Allele description [Variation Report for NM_001243279.3(ACSF3):c.1718del (p.Phe573fs)]

NM_001243279.3(ACSF3):c.1718del (p.Phe573fs)

Gene:

ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_001243279.3(ACSF3):c.1718del (p.Phe573fs)

HGVS:

NC_000016.10:g.89154194del
NG_031961.1:g.65386del
NM_001127214.4:c.1718del
NM_001243279.3:c.1718delMANE SELECT
NM_001284316.2:c.923del
NM_174917.5:c.1718del
NP_001120686.1:p.Phe573fs
NP_001230208.1:p.Phe573fs
NP_001271245.1:p.Phe308fs
NP_777577.2:p.Phe573fs
NC_000016.9:g.89220602del
NM_001127214.4:c.1718del
NM_174917.3:c.1718delT
NR_045667.2:n.844del
NR_104293.2:n.2109del
NR_147928.2:n.2153del
NR_147929.2:n.1907del
p.F573SfsX99

Protein change:

F308fs

Links:

dbSNP: rs796051924

NCBI 1000 Genomes Browser:

rs796051924

Molecular consequence:

NM_001127214.4:c.1718del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001243279.3:c.1718del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001284316.2:c.923del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_174917.5:c.1718del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_045667.2:n.844del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104293.2:n.2109del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147928.2:n.2153del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_147929.2:n.1907del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000238688	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Oct 20, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000238688

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Oct 20, 2016)

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, SCV000238688.7

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

Description

The c.1718delT variant in the ACSF3 gene causes a frameshift starting with codon Phenylalanine 573, changes this amino acid to a Serine residue and creates a premature Stop codon at position 99 of the new reading frame, denoted p.Phe573SerfsX99. The normal sequence with the base that is deleted in braces is: CACT{T}CCAC. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1718delT variant, previously reported as a pathogenic variant, has been classified as a likely pathogenic variant based on review of the data in the context of the 2015 ACMG Standards and guidelines for the interpretation of sequence variants (Richards et al., 2015).

#	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: Dec 30, 2023

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