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NM_001099667.3(ARMS2):c.*373T>G AND Macular degeneration

Germline classification:
Likely benign (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:
RCV000322688.6

Allele description [Variation Report for NM_001099667.3(ARMS2):c.*373T>G]

NM_001099667.3(ARMS2):c.*373T>G

Gene:
ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NM_001099667.3(ARMS2):c.*373T>G
HGVS:
  • NC_000010.11:g.122457306T>G
  • NG_011554.1:g.782T>G
  • NG_011725.1:g.7644T>G
  • NM_001099667.3:c.*373T>GMANE SELECT
  • NC_000010.10:g.124216822T>G
  • NM_001099667.1:c.*373T>G
Links:
dbSNP: rs4752698
NCBI 1000 Genomes Browser:
rs4752698
Molecular consequence:
  • NM_001099667.3:c.*373T>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000361204Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Likely benign
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Citations

PubMed

Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus.

Liang XY, Lai TY, Liu DT, Fan AH, Chen LJ, Tam PO, Chiang SW, Ng TK, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2012 May 31;53(6):3175-82. doi: 10.1167/iovs.11-8135.

PubMed [citation]
PMID:
22491416

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000361204.2

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

Last Updated: Dec 24, 2023