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NM_000039.3(APOA1):c.51G>C (p.Gln17His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 6, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003151585.2

Allele description [Variation Report for NM_000039.3(APOA1):c.51G>C (p.Gln17His)]

NM_000039.3(APOA1):c.51G>C (p.Gln17His)

Genes:
APOA1-AS:APOA1 antisense RNA [Gene - OMIM - HGNC]
APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000039.3(APOA1):c.51G>C (p.Gln17His)
HGVS:
  • NC_000011.10:g.116837150C>G
  • NG_012021.1:g.5473G>C
  • NM_000039.3:c.51G>CMANE SELECT
  • NM_001318017.2:c.51G>C
  • NM_001318018.2:c.51G>C
  • NM_001318021.2:c.-240-37G>C
  • NM_001425090.1:c.51G>C
  • NM_001425091.1:c.-128+195G>C
  • NM_001425092.1:c.-276-1G>C
  • NM_001425093.1:c.51G>C
  • NP_000030.1:p.Gln17His
  • NP_000030.1:p.Gln17His
  • NP_001304946.1:p.Gln17His
  • NP_001304947.1:p.Gln17His
  • NP_001412019.1:p.Gln17His
  • NP_001412022.1:p.Gln17His
  • LRG_767t1:c.51G>C
  • LRG_767:g.5473G>C
  • LRG_767p1:p.Gln17His
  • NC_000011.9:g.116707866C>G
  • NM_000039.1:c.51G>C
  • NM_000039.2:c.51G>C
Protein change:
Q17H
Molecular consequence:
  • NM_001318021.2:c.-240-37G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425091.1:c.-128+195G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000039.3:c.51G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318017.2:c.51G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318018.2:c.51G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425090.1:c.51G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425093.1:c.51G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425092.1:c.-276-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839781Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Jun 6, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839781.1

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

Description

DNA sequence analysis of the APOA1 gene demonstrated a sequence change, c.51G>C, in exon 3 that results in an amino acid change, p.Gln17His. This sequence change does not appear to have been previously described in individuals with APOA1-related disorders and has also not been described in population databases such as gnomAD. The p.Gln17His change affects a highly conserved amino acid residue. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gln17His substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gln17His change remains unknown at this time.

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

Last Updated: Sep 1, 2024