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NM_000243.3(MEFV):c.948C>T (p.His316=) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Nov 2, 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:
RCV001712821.4

Allele description [Variation Report for NM_000243.3(MEFV):c.948C>T (p.His316=)]

NM_000243.3(MEFV):c.948C>T (p.His316=)

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.948C>T (p.His316=)
HGVS:
  • NC_000016.10:g.3249743G>A
  • NG_007871.1:g.11885C>T
  • NM_000243.3:c.948C>TMANE SELECT
  • NM_001198536.2:c.315C>T
  • NP_000234.1:p.His316=
  • NP_000234.1:p.His316=
  • NP_001185465.2:p.His105=
  • LRG_190t1:c.948C>T
  • LRG_190:g.11885C>T
  • LRG_190p1:p.His316=
  • NC_000016.9:g.3299743G>A
  • NC_000016.9:g.3299743G>A
  • NM_000243.2:c.948C>T
Links:
dbSNP: rs150252937
NCBI 1000 Genomes Browser:
rs150252937
Molecular consequence:
  • NM_000243.3:c.948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001198536.2:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001939665GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Benign
(Mar 3, 2015) 		germlineclinical testing

Citation Link,

SCV003800537ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Likely benign
(Nov 2, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001939665.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV003800537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024