NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Jun 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000444454.5

Allele description [Variation Report for NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)]

NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)

Gene:
ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
HGVS:
  • NC_000016.10:g.89145370G>C
  • NG_031961.1:g.56562G>C
  • NM_001127214.4:c.1470G>C
  • NM_001243279.3:c.1470G>CMANE SELECT
  • NM_001284316.2:c.675G>C
  • NM_174917.5:c.1470G>C
  • NP_001120686.1:p.Glu490Asp
  • NP_001230208.1:p.Glu490Asp
  • NP_001271245.1:p.Glu225Asp
  • NP_777577.2:p.Glu490Asp
  • NC_000016.9:g.89211778G>C
  • NM_174917.3:c.1470G>C
  • NM_174917.4:c.1470G>C
  • NR_045667.2:n.596G>C
  • NR_104293.2:n.1861G>C
  • NR_147928.2:n.1905G>C
  • NR_147929.2:n.1659G>C
Protein change:
E225D
Links:
dbSNP: rs147538370
NCBI 1000 Genomes Browser:
rs147538370
Molecular consequence:
  • NM_001127214.4:c.1470G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243279.3:c.1470G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284316.2:c.675G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174917.5:c.1470G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045667.2:n.596G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104293.2:n.1861G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147928.2:n.1905G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147929.2:n.1659G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511955GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 30, 2019)
germlineclinical testing

Citation Link,

SCV001249837CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Jun 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000511955.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 26827111)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001249837.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 6, 2021

Support Center