NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) AND not specified

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: May 9, 2016
Review status:: criteria provided, conflicting classifications

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:: RCV000215679.3

Allele description

NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser)

HGVS:

NC_000016.10:g.3249586G>A
NG_007871.1:g.12042C>T
NM_000243.2:c.1105C>T
NP_000234.1:p.Pro369Ser
LRG_190t1:c.1105C>T
LRG_190:g.12042C>T
LRG_190p1:p.Pro369Ser
NC_000016.9:g.3299586G>A
O15553:p.Pro369Ser

Protein change:

P369S; PRO369SER

Links:

UniProtKB: O15553#VAR_009055; OMIM: 608107.0014; dbSNP: rs11466023

GMAF:

0.0202(A), 11466023

NCBI 1000 Genomes Browser:

rs11466023

Allele Frequency:

0.0056, GO-ESP

Molecular consequence:

NM_000243.2:c.1105C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000279046	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (May 9, 2016)	germline	clinical testing	Citation Link,
SCV000303115	PreventionGenetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279046

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(May 9, 2016)

germline

clinical testing

Citation Link,

SCV000303115

PreventionGenetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000279046.4

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

Description

P369S occurs on approximately 2-3% of MEFV genes carrying pathogenic variants. This variant has been described in individuals of Armenian and Ashkenazi Jewish ancestry, as well as other ethnicities (Aksentijevich et al., 1999). It was considered a low penetrance pathogenic variant and has occasionally been observed in a homozygous state in clinically unaffected Ashkenazi Jewish individuals. It was also observed with an allele frequency of 1% in the general population and may be a functional polymorphism (Masters et al., 2009). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	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 PreventionGenetics, SCV000303115.1

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

#	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: Dec 24, 2016

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