NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) AND Combined malonic and methylmalonic acidemia

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Oct 3, 2023
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:: RCV001827991.2

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)

Name:: Combined malonic and methylmalonic acidemia
Synonyms:: Combined malonic and methylmalonic aciduria
Identifiers:: MONDO: MONDO:0013661; MedGen: C3280314; Orphanet: 289504; OMIM: 614265

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002092440	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Oct 2, 2020)	germline	clinical testing
SCV004213851	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 3, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002092440

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Oct 2, 2020)

germline

clinical testing

SCV004213851

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 3, 2023)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Natera, Inc., SCV002092440.1

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

#	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

From Baylor Genetics, SCV004213851.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

ClinVar

Relating variation to medicine