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NM_000243.3(MEFV):c.1622T>C (p.Val541Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 2016
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:
RCV000587448.1

Allele description [Variation Report for NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)]

NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)

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.1622T>C (p.Val541Ala)
HGVS:
  • NC_000016.10:g.3244577A>G
  • NG_007871.1:g.17051T>C
  • NM_000243.3:c.1622T>CMANE SELECT
  • NM_001198536.2:c.989T>C
  • NP_000234.1:p.Val541Ala
  • NP_000234.1:p.Val541Ala
  • NP_001185465.2:p.Val330Ala
  • LRG_190t1:c.1622T>C
  • LRG_190:g.17051T>C
  • LRG_190p1:p.Val541Ala
  • NC_000016.9:g.3294577A>G
  • NM_000243.2:c.1622T>C
Protein change:
V330A
Links:
dbSNP: rs922232615
NCBI 1000 Genomes Browser:
rs922232615
Molecular consequence:
  • NM_000243.3:c.1622T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198536.2:c.989T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000696053Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 8, 2016) 		germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696053.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: The c.1622T>C Variant affects a non-conserved nucleotide and results in a replacement of a medium size and hydrophobic Valine (V) with a small size and hydrophobic Alanine (A). 2/4 in silico tools predict the variant to be neutral. The variant is absent from the large and broad cohorts of the ExAC project and to our knowledge, it has not been reported in affected patients either. Due to the lack of clinical data and functional studies, the variant was classified as a variant of uncertain significance until more information becomes available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023