NM_000243.3(MEFV):c.42G>A (p.Glu14=) AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Sep 26, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000126744.10

Allele description [Variation Report for NM_000243.3(MEFV):c.42G>A (p.Glu14=)]

NM_000243.3(MEFV):c.42G>A (p.Glu14=)

Gene:

MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000243.3(MEFV):c.42G>A (p.Glu14=)

Other names:

p.E14E:GAG>GAA

HGVS:

NC_000016.10:g.3256546C>T
NG_007871.1:g.5082G>A
NM_000243.3:c.42G>AMANE SELECT
NM_001198536.2:c.42G>A
NP_000234.1:p.Glu14=
NP_000234.1:p.Glu14=
NP_001185465.2:p.Glu14=
LRG_190t1:c.42G>A
LRG_190:g.5082G>A
LRG_190p1:p.Glu14=
NC_000016.9:g.3306546C>T
NM_000243.2:c.42G>A
p.Glu14Glu

Links:

dbSNP: rs113314808

NCBI 1000 Genomes Browser:

rs113314808

Molecular consequence:

NM_000243.3:c.42G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001198536.2:c.42G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000170256	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jan 23, 2012)	germline	clinical testing	Citation Link,
SCV000696071	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Sep 26, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000170256

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jan 23, 2012)

germline

clinical testing

Citation Link,

SCV000696071

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Sep 26, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000170256.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696071.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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