NM_000243.3(MEFV):c.787C>G (p.Leu263Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2017
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:: RCV000781532.1

Allele description [Variation Report for NM_000243.3(MEFV):c.787C>G (p.Leu263Val)]

NM_000243.3(MEFV):c.787C>G (p.Leu263Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000243.3(MEFV):c.787C>G (p.Leu263Val)

HGVS:

NC_000016.10:g.3254281G>C
NG_007871.1:g.7347C>G
NM_000243.3:c.787C>GMANE SELECT
NM_001198536.2:c.277+2030C>G
NP_000234.1:p.Leu263Val
NP_000234.1:p.Leu263Val
LRG_190t1:c.787C>G
LRG_190:g.7347C>G
LRG_190p1:p.Leu263Val
NC_000016.9:g.3304281G>C
NM_000243.2:c.787C>G

Protein change:

L263V

Links:

dbSNP: rs1567237104

NCBI 1000 Genomes Browser:

rs1567237104

Molecular consequence:

NM_001198536.2:c.277+2030C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000243.3:c.787C>G - 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
SCV000919634	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Dec 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000919634

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Dec 28, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919634.1

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

Description

Variant summary: The MEFV c.787C>G (p.Leu263Val) variant involves the alteration of a non-conserved nucleotide not located in any known domain (InterPro). 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant is absent in 246222 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

#	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: Apr 23, 2022

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