NM_001099667.3(ARMS2):c.*377dup AND Macular degeneration

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 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:: RCV000367769.5

Allele description [Variation Report for NM_001099667.3(ARMS2):c.*377dup]

NM_001099667.3(ARMS2):c.*377dup

Gene:

ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q26.13

Genomic location:

Preferred name:

NM_001099667.3(ARMS2):c.*377dup

HGVS:

NC_000010.11:g.122457310dup
NG_011554.1:g.786dup
NG_011725.1:g.7648dup
NM_001099667.3:c.*377dupMANE SELECT
NC_000010.10:g.124216826dup
NM_001099667.1:c.*377dupA

Links:

dbSNP: rs886046772

NCBI 1000 Genomes Browser:

rs886046772

Molecular consequence:

NM_001099667.3:c.*377dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Macular degeneration
Synonyms:: Degenerative disorder of macula
Identifiers:: MONDO: MONDO:0003004; MedGen: C0024437; Human Phenotype Ontology: HP:0000608

Recent activity

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SRP117950 (16)
SRA
Mus musculus strain C57BL/6J chromosome 16, GRCm39
Mus musculus strain C57BL/6J chromosome 16, GRCm39
gi|1877089953|gnl|ASM:GCF_000000055 ef|NC_000082.7||gpp|GPC_000007828.1||gnl|NCBI_GENOMES|84

Nucleotide
oocyte maturation factor, partial [Anepischetosia maccoyi]
oocyte maturation factor, partial [Anepischetosia maccoyi]
gi|386779501|gb|AFJ24233.1|

Protein
PubChem Compound Links for Gene (Select 309451) (10)
PubChem Compound
Superfamily Member Links for Conserved Domains (Select 188898) (125)
Conserved Domains

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000361206	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000361206

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000361206.2

#	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

Last Updated: Apr 9, 2023

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