NM_000243.3(MEFV):c.414A>G (p.Gly138=) AND Familial Mediterranean fever
- Germline classification:
- Benign (5 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000030183.24
Allele description [Variation Report for NM_000243.3(MEFV):c.414A>G (p.Gly138=)]
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
- 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.414A>G (p.Gly138=)
- Other names:
- p.G138G:GGA>GGG
- HGVS:
- NC_000016.10:g.3254654T>C
- NG_007871.1:g.6974A>G
- NM_000243.3:c.414A>GMANE SELECT
- NM_001198536.2:c.277+1657A>G
- NP_000234.1:p.Gly138=
- NP_000234.1:p.Gly138=
- LRG_190t1:c.414A>G
- LRG_190:g.6974A>G
- LRG_190p1:p.Gly138=
- NC_000016.9:g.3304654T>C
- NM_000243.2:c.414A>G
This HGVS expression did not pass validation- Links:
- dbSNP: rs224224
- NCBI 1000 Genomes Browser:
- rs224224
- Molecular consequence:
- NM_001198536.2:c.277+1657A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_000243.3:c.414A>G - synonymous variant - [Sequence Ontology: SO:0001819]
- Observations:
- 76
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000052847 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | benign (Aug 18, 2011) | germline | curation, clinical testing | |
SCV000396781 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) | Benign (Jan 13, 2018) | germline | clinical testing | |
SCV001452091 | Natera, Inc. | no assertion criteria provided | Benign (Sep 16, 2020) | germline | clinical testing | |
SCV001717596 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Benign (Feb 1, 2024) | germline | clinical testing | |
SCV001750597 | Genome-Nilou Lab | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Jul 1, 2021) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | curation |
not provided | germline | unknown | 76 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 10364520
- PMCID:
- PMC1378078
[No authors listed]
Cell. 1997 Aug 22;90(4):797-807.
- PMID:
- 9288758
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052847.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (3) |
2 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
3 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
4 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
5 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
6 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
7 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
8 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
9 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
10 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
11 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
12 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
13 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
14 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
15 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
16 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
17 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
18 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
19 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
20 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
21 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
22 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
23 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
24 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
25 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
26 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
27 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
28 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
29 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
30 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
31 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
32 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
33 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
34 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
35 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
36 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
37 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
38 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
39 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
40 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
41 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
42 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
43 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
44 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
45 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
46 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
47 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
48 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
49 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
50 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
51 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
52 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
53 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
54 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
55 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
56 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
57 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
58 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
59 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
60 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
61 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
62 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
63 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
64 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
65 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
66 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
67 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
68 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
69 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
70 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
71 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
72 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
73 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
74 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
75 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
76 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
77 | not provided | not provided | not provided | not provided | clinical testing | PubMed (3) |
Description
Converted during submission to Benign.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | not provided | |
2 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 2 | |
3 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 3 | |
4 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 4 | |
5 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 5 | |
6 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 6 | |
7 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 7 | |
8 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 8 | |
9 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 9 | |
10 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 10 | |
11 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 11 | |
12 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 12 | |
13 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 13 | |
14 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 14 | |
15 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 15 | |
16 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 16 | |
17 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 17 | |
18 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 18 | |
19 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 19 | |
20 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 20 | |
21 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 21 | |
22 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 22 | |
23 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 23 | |
24 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 24 | |
25 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 25 | |
26 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 26 | |
27 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 27 | |
28 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 28 | |
29 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 29 | |
30 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 30 | |
31 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 31 | |
32 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 32 | |
33 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 33 | |
34 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 34 | |
35 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 35 | |
36 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 36 | |
37 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 37 | |
38 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 38 | |
39 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 39 | |
40 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 40 | |
41 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 41 | |
42 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 42 | |
43 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 43 | |
44 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 44 | |
45 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 45 | |
46 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 46 | |
47 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 47 | |
48 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 48 | |
49 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 49 | |
50 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 50 | |
51 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 51 | |
52 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 52 | |
53 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 53 | |
54 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 54 | |
55 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 55 | |
56 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 56 | |
57 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 57 | |
58 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 58 | |
59 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 59 | |
60 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 60 | |
61 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 61 | |
62 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 62 | |
63 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 63 | |
64 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 64 | |
65 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 65 | |
66 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 66 | |
67 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 67 | |
68 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 68 | |
69 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 69 | |
70 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 70 | |
71 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 71 | |
72 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 72 | |
73 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 73 | |
74 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 74 | |
75 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 75 | |
76 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 76 | |
77 | germline | unknown | not provided | Blood | assert pathogenicity | not provided | not provided | not provided | See 77 |
Co-occurrences
# | Zygosity | Alleles | Number of Observations |
---|---|---|---|
2 | Homozygote | 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.306T>C, 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.306T>C, MEFV:c.605G>A | 1 |
3 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2040G>C | 1 |
4 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
5 | Homozygote | 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.306T>C, 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.306T>C, MEFV:c.605G>A | 1 |
6 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2040G>C | 1 |
7 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
8 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
9 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
10 | Homozygote | 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.306T>C | 1 |
11 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2230G>T | 1 |
12 | Homozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
13 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, 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>A | 1 |
14 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
15 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
16 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A | 1 |
17 | Homozygote | 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.306T>C, MEFV:c.605G>A | 1 |
18 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A | 1 |
19 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
20 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A | 1 |
21 | Homozygote | 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.306T>C, MEFV:c.605G>A | 1 |
22 | Homozygote | MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.605G>A | 1 |
23 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
24 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
25 | Homozygote | MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.605G>A | 1 |
26 | Homozygote | MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1530T>C, MEFV:c.605G>A | 1 |
27 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
28 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.1772T>C | 1 |
29 | Homozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
30 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
31 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
32 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
33 | Homozygote | 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.306T>C, MEFV:c.605G>A | 1 |
34 | Homozygote | 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.306T>C | 1 |
35 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
36 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.2177T>C | 1 |
37 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
38 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.605G>A | 1 |
39 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
40 | SingleHeterozygote | MEFV:c.1764G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
41 | Homozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
42 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.443A>T | 1 |
43 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
44 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
45 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A | 1 |
46 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2040G>C | 1 |
47 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, CD40:c.-1T>C | 1 |
48 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
49 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, 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>C | 1 |
50 | Homozygote | MEFV: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.306T>C, MEFV:c.605G>A, MEFV:c.1223G>A, MEFV:c.1105C>T | 1 |
51 | Homozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.2118G>A | 1 |
52 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
53 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
54 | SingleHeterozygote | MEFV:c.1428A>G, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
55 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2040G>C | 1 |
56 | Homozygote | 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.306T>C, MEFV:c.605G>A | 1 |
57 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
58 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
59 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A | 1 |
60 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2040G>C | 1 |
61 | Homozygote | 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.306T>C, MEFV:c.605G>A, MEFV:c.2080A>G, MEFV:c.2040G>C | 1 |
62 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
63 | Homozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.2080A>G | 1 |
64 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.1518C>T | 1 |
65 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A, MEFV:c.1260+10C>T | 1 |
66 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.1260+10C>T | 1 |
67 | Homozygote | 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.306T>C, MEFV:c.2040G>C | 1 |
68 | Homozygote | MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1530T>C, MEFV:c.605G>A | 1 |
69 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.442G>C | 1 |
70 | Homozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.605G>A | 1 |
71 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
72 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A | 1 |
73 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.605G>A | 1 |
74 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.942C>T, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.97G>T | 1 |
75 | SingleHeterozygote | MEFV:c.942C>T, MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.1422G>A, MEFV:c.2177T>C, MEFV:c.2080A>G | 1 |
76 | Homozygote | MEFV:c.1764G>A, MEFV:c.1530T>C, MEFV:c.1428A>G, MEFV:c.495C>A, MEFV:c.1422G>A, MEFV:c.306T>C, MEFV:c.605G>A, MEFV:c.942C>T | 1 |
77 | SingleHeterozygote | MEFV:c.495C>A, MEFV:c.306T>C, MEFV:c.1764G>A, MEFV:c.605G>A, MEFV:c.2080A>G | 1 |
From Illumina Laboratory Services, Illumina, SCV000396781.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not 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.
# | 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 |
From Natera, Inc., SCV001452091.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | 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 |
From Invitae, SCV001717596.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | 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 |
From Genome-Nilou Lab, SCV001750597.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Sep 16, 2024