NM_000243.3(MEFV):c.574A>G (p.Arg192Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 5, 2020
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:: RCV001812251.13

Allele description [Variation Report for NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)]

NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)

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.574A>G (p.Arg192Gly)

HGVS:

NC_000016.10:g.3254494T>C
NG_007871.1:g.7134A>G
NM_000243.3:c.574A>GMANE SELECT
NM_001198536.2:c.277+1817A>G
NP_000234.1:p.Arg192Gly
LRG_190t1:c.574A>G
LRG_190:g.7134A>G
NC_000016.9:g.3304494T>C
NM_000243.2:c.574A>G

Protein change:

R192G

Links:

dbSNP: rs745839954

NCBI 1000 Genomes Browser:

rs745839954

Molecular consequence:

NM_001198536.2:c.277+1817A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000243.3:c.574A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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gi|2673160940|dbj|LC781032.1|

Nucleotide
Prl8a8 prolactin family 8, subfamily a, member 81 [Mus musculus]
Prl8a8 prolactin family 8, subfamily a, member 81 [Mus musculus]
Gene ID:74188

Gene
PREDICTED: coiled-coil domain-containing protein 36 isoform X2 [Monodelphis dome...
PREDICTED: coiled-coil domain-containing protein 36 isoform X2 [Monodelphis domestica]
gi|1023024624|ref|XP_016279869.1|

Protein
2-oxoglutarate dehydrogenase E1 component [Rhodopirellula baltica SH 1]
2-oxoglutarate dehydrogenase E1 component [Rhodopirellula baltica SH 1]
gi|32475700|ref|NP_868694.1|

Protein
McLeod neuroacanthocytosis syndrome
McLeod neuroacanthocytosis syndrome

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001473338	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jan 5, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001473338

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jan 5, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473338.1

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

Description

The MEFV c.574A>G; p.Arg192Gly variant (rs745839954), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on four alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 192 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg192Gly variant is uncertain at this time.

#	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: Oct 26, 2024

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