Version 2.78

Term Description

The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Sample variant allelic frequency
Property
NFr
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Long Common Name
Sample variant allelic frequency [NFr]
Short Name
Sample VAF
Display Name
Sample variant allelic frequency
Consumer Name Alpha Get Info
Sample variant allelic frequency

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.73
Change Reason
Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
Order vs. Observation
Observation
Common Test Rank Get Info
8648

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^ Paciente:Cuantitativo:
fr-FR French (France) Example de fréquence de variant allélique:Fraction de nombres:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Frequenza allelica della variante campione:NFr:Pt:^Paziente:Qn:
Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 样品等位基因频率:计数型分数:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 对偶基因频率;基因位点频率 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 样品（标本、样本、试样）等位基因频率 频次;频度;频繁性;次数;频率分布;发生次数;周率;频繁程度

Example Units

Unit Source
% Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81258-6