NM_000243.2(MEFV):c.306T>C (p.Asp102=) AND Familial Mediterranean fever

Clinical significance:Benign (Last evaluated: Jul 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000030182.7

Allele description [Variation Report for NM_000243.2(MEFV):c.306T>C (p.Asp102=)]

NM_000243.2(MEFV):c.306T>C (p.Asp102=)

Gene:
MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.2(MEFV):c.306T>C (p.Asp102=)
HGVS:
  • NC_000016.10:g.3254762A>G
  • NG_007871.1:g.6866T>C
  • NM_000243.2:c.306T>C
  • NM_001198536.1:c.277+1549T>C
  • NP_000234.1:p.Asp102=
  • LRG_190t1:c.306T>C
  • LRG_190:g.6866T>C
  • LRG_190p1:p.Asp102=
  • NC_000016.9:g.3304762A>G
Links:
dbSNP: rs224225
NCBI 1000 Genomes Browser:
rs224225
Molecular consequence:
  • NM_001198536.1:c.277+1549T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.2:c.306T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
77

Condition(s)

Name:
Familial Mediterranean fever (FMF)
Synonyms:
POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052846Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
benign
(Aug 18, 2011)
germlinecuration, clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000396784Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jan 12, 2018)
germlineclinical testing

Citation Link,

SCV001457159Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

SCV001717597Invitaecriteria provided, single submitter
Benign
(Dec 5, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001750599Nilou-Genome Labcriteria provided, single submitter
Benign
(Jul 1, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown77not providednot providednot providednot providedclinical testing

Citations

PubMed

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S.

Am J Hum Genet. 1999 Jul;65(1):88-97.

PubMed [citation]
PMID:
10364520
PMCID:
PMC1378078
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052846.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
2not providednot providednot providednot providedclinical testing PubMed (2)
3not providednot providednot providednot providedclinical testing PubMed (2)
4not providednot providednot providednot providedclinical testing PubMed (2)
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78not providednot providednot providednot providedclinical testing PubMed (2)

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2
3germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 3
4germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 4
5germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 5
6germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 6
7germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 7
8germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 8
9germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 9
10germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 10
11germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 11
12germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 12
13germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 13
14germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 14
15germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 15
16germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 16
17germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 17
18germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 18
19germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 19
20germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 20
21germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 21
22germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 22
23germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 23
24germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 24
25germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 25
26germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 26
27germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 27
28germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 28
29germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 29
30germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 30
31germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 31
32germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 32
33germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 33
34germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 34
35germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 35
36germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 36
37germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 37
38germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 38
39germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 39
40germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 40
41germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 41
42germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 42
43germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 43
44germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 44
45germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 45
46germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 46
47germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 47
48germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 48
49germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 49
50germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 50
51germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 51
52germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 52
53germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 53
54germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 54
55germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 55
56germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 56
57germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 57
58germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 58
59germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 59
60germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 60
61germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 61
62germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 62
63germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 63
64germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 64
65germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 65
66germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 66
67germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 67
68germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 68
69germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 69
70germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 70
71germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 71
72germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 72
73germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 73
74germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 74
75germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 75
76germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 76
77germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 77
78germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 78

Co-occurrences

#ZygosityAllelesNumber of Observations
2HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A, MEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
3SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2040G>C1
4SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
5HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A, MEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
6SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2040G>C1
7SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
8SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
9SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
10HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G1
11SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2230G>T1
12HomozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
13SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.442G>C, TGFBR2:c.455-4T>A, TGFBR2:c.263+7A>G, FBN1:c.6997+17C>G, FBN1:c.1415G>A1
14SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
15SingleHeterozygoteATP7B:c.2866-13G>C, ATP7B:c.3903+6C>T, ATP7B:c.2855G>A, ATP7B:c.2495A>G, ATP7B:c.1366G>C, ATP7B:c.1216T>G, ATP7B:c.3419T>C, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
16SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
17SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A1
18HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
19SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A1
20SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
21SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A1
22HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
23HomozygoteMEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
24SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
25SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
26HomozygoteMEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
27HomozygoteMEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1530T>C, MEFV:c.605G>A1
28SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
29SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.1772T>C1
30HomozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
31SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
32SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
33SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
34HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
35HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G1
36SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
37SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.2177T>C1
38SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
39SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.605G>A1
40SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
41SingleHeterozygoteMEFV:c.1764G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
42HomozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
43SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.443A>T1
44SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
45SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
46SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A1
47SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2040G>C1
48SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, CD40:c.-1T>C1
49SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
50SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1759+8C>T, MEFV:c.1530T>C, MEFV:c.1503C>T, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.942C>T, MEFV:c.605G>A, MEFV:c.1105C>T, MEFV:c.442G>C1
51HomozygoteMEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1503C>T, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A, MEFV:c.1223G>A, MEFV:c.1105C>T1
52HomozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.2118G>A1
53SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
54SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
55SingleHeterozygoteMEFV:c.1428A>G, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1422G>A, MEFV:c.605G>A1
56SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2040G>C1
57HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A1
58SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
59SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
60SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A1
61SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2040G>C1
62HomozygoteMEFV:c.942C>T, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.605G>A, MEFV:c.2080A>G, MEFV:c.2040G>C1
63SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
64HomozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.2080A>G1
65SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.1518C>T1
66SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.1260+10C>T1
67SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.1260+10C>T1
68HomozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.414A>G, MEFV:c.2040G>C1
69HomozygoteMEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1530T>C, MEFV:c.605G>A1
70SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.442G>C1
71HomozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.605G>A1
72SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
73SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A1
74SingleHeterozygoteMEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A1
75SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.97G>T1
76SingleHeterozygoteMEFV:c.414A>G, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2080A>G1
77HomozygoteMEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.942C>T1
78SingleHeterozygoteMEFV:c.495C>A, MEFV:c.414A>G, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.2080A>G1

From Illumina Clinical Services Laboratory,Illumina, SCV000396784.3

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

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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

From Natera, Inc., SCV001457159.1

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

From Invitae, SCV001717597.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Nilou-Genome Lab, SCV001750599.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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