NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 28, 2022
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:: RCV000217446.6

Allele description [Variation Report for NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)]

NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)

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.2338C>A (p.Pro780Thr)

HGVS:

NC_000016.10:g.3243149G>T
NG_007871.1:g.18479C>A
NM_000243.3:c.2338C>AMANE SELECT
NM_001198536.2:c.*542C>A
NP_000234.1:p.Pro780Thr
NP_000234.1:p.Pro780Thr
LRG_190t1:c.2338C>A
LRG_190:g.18479C>A
LRG_190p1:p.Pro780Thr
NC_000016.9:g.3293149G>T
NM_000243.1:c.2338C>A
NM_000243.2:c.2338C>A
O15553:p.Pro780Thr

Protein change:

P780T

Links:

UniProtKB: O15553#VAR_028353; dbSNP: rs104895154

NCBI 1000 Genomes Browser:

rs104895154

Molecular consequence:

NM_001198536.2:c.*542C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000243.3:c.2338C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000279570	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 28, 2022)	germline	clinical testing	Citation Link,
SCV000927692	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (May 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000279570

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 28, 2022)

germline

clinical testing

Citation Link,

SCV000927692

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(May 18, 2018)

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, SCV000279570.10

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

Description

Identified in the literature (Goulielmos et al., 2006) to be associated with mild severity of familial Mediterranean fever; however, clinical information was not provided; Identified in a patient with palindromic rheumatism in the literature (Canete et al., 2007); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17665427, 16730661)

#	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 Blueprint Genetics, SCV000927692.1

#	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: Sep 29, 2024

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