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NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT AND Age related macular degeneration 8

Germline classification:
risk factor (1 submission)
Last evaluated:
Jul 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000001031.2

Allele description [Variation Report for NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT]

NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT

Gene:
ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
10q26.13
Genomic location:
Preferred name:
NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
HGVS:
  • NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
  • NG_011554.1:g.781_1224delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
  • NG_011725.1:g.7643_8086delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
  • NC_000010.10:g.124216821_124217264delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
Note:
NCBI staff provided an HGVS expression for allelic variant 611313.0002 from the sequence reported in Figure 1a of the paper by Fritsche et al., 2008 (PubMed 18511946).
Links:
OMIM: 611313.0002; dbSNP: rs2133900556
NCBI 1000 Genomes Browser:
rs2133900556

Condition(s)

Name:
Age related macular degeneration 8
Identifiers:
MONDO: MONDO:0013416; MedGen: C3151070; OMIM: 613778

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021181OMIM
no assertion criteria provided
risk factor
(Jul 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH.

Nat Genet. 2008 Jul;40(7):892-6. doi: 10.1038/ng.170. Epub 2008 May 30.

PubMed [citation]
PMID:
18511946

Details of each submission

From OMIM, SCV000021181.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Fritsche et al. (2008) showed that an insertion/deletion polymorphism in the 3-prime untranslated region of the LOC387715 gene, 372_815del443ins54, is strongly associated with age-related macular degeneration (613778) (4.1 x 10(-29)), directly affecting the transcript by removing the polyadenylation signal and inserting a 54-bp element known to mediate rapid mRNA turnover. Expression of ARMS2 in homozygous carriers of the indel variant was not detectable. Because the normal protein was localized most prominently to mitochondria in the ellipsoid region of the rod and cone segments, Fritsche et al. (2008) proposed that the LOC387715 gene has a key role in age-related macular degeneration, possibly through mitochondria-related pathways.

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

Last Updated: Jan 13, 2025