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NM_001091.4(AOC1):c.1175C>T (p.Pro392Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2024
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:
RCV004424699.1

Allele description [Variation Report for NM_001091.4(AOC1):c.1175C>T (p.Pro392Leu)]

NM_001091.4(AOC1):c.1175C>T (p.Pro392Leu)

Gene:
AOC1:amine oxidase copper containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_001091.4(AOC1):c.1175C>T (p.Pro392Leu)
HGVS:
  • NC_000007.14:g.150857645C>T
  • NG_112810.1:g.911C>T
  • NM_001091.4:c.1175C>TMANE SELECT
  • NM_001272072.2:c.1175C>T
  • NP_001082.2:p.Pro392Leu
  • NP_001259001.1:p.Pro392Leu
  • NC_000007.13:g.150554733C>T
  • NM_001091.2:c.1175C>T
Protein change:
P392L
Molecular consequence:
  • NM_001091.4:c.1175C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001272072.2:c.1175C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004908264Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 5, 2024) 		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, SCV004908264.1

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

Description

The c.1175C>T (p.P392L) alteration is located in exon 2 (coding exon 1) of the AOC1 gene. This alteration results from a C to T substitution at nucleotide position 1175, causing the proline (P) at amino acid position 392 to be replaced by a leucine (L). 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