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NM_001243279.3(ACSF3):c.647A>C (p.His216Pro) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 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:
RCV004430552.1

Allele description [Variation Report for NM_001243279.3(ACSF3):c.647A>C (p.His216Pro)]

NM_001243279.3(ACSF3):c.647A>C (p.His216Pro)

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.647A>C (p.His216Pro)
HGVS:
  • NC_000016.10:g.89101328A>C
  • NG_031961.1:g.12520A>C
  • NM_001127214.4:c.647A>C
  • NM_001243279.3:c.647A>CMANE SELECT
  • NM_001284316.2:c.-129-1276A>C
  • NM_174917.5:c.647A>C
  • NP_001120686.1:p.His216Pro
  • NP_001230208.1:p.His216Pro
  • NP_777577.2:p.His216Pro
  • NC_000016.9:g.89167736A>C
  • NM_174917.3:c.647A>C
  • NR_104293.2:n.985A>C
  • NR_147928.2:n.985A>C
  • NR_147929.2:n.985A>C
Protein change:
H216P
Molecular consequence:
  • NM_001284316.2:c.-129-1276A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127214.4:c.647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243279.3:c.647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_174917.5:c.647A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104293.2:n.985A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147928.2:n.985A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147929.2:n.985A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004923030Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 17, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004923030.1

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

Description

The c.647A>C (p.H216P) alteration is located in exon 3 (coding exon 1) of the ACSF3 gene. This alteration results from a A to C substitution at nucleotide position 647, causing the histidine (H) at amino acid position 216 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024