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NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys) AND Alzheimer disease 9

Germline classification:
risk factor (1 submission)
Last evaluated:
Jun 1, 2021
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:
RCV001810081.1

Allele description [Variation Report for NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys)]

NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys)

Gene:
ABCA7:ATP binding cassette subfamily A member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys)
HGVS:
  • NC_000019.10:g.1046955G>T
  • NG_046909.1:g.11853G>T
  • NM_019112.4:c.1776G>TMANE SELECT
  • NP_061985.2:p.Trp592Cys
  • NC_000019.9:g.1046954G>T
Protein change:
W592C
Links:
dbSNP: rs746307442
NCBI 1000 Genomes Browser:
rs746307442
Molecular consequence:
  • NM_019112.4:c.1776G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alzheimer disease 9
Synonyms:
ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; ALZHEIMER DISEASE 9, LATE-ONSET
Identifiers:
MONDO: MONDO:0012153; MedGen: C4282179; OMIM: 608907

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001751545Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara - TANGL
criteria provided, single submitter

(Bellenguez et al., 2017)		risk factor
(Jun 1, 2021) 		inheritedcase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicinheritedyes11not providednot providednot providedcase-control

Citations

PubMed

Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.

Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, et al.

Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. doi: 10.1016/j.neurobiolaging.2017.07.001. Epub 2017 Jul 14.

PubMed [citation]
PMID:
28789839

Details of each submission

From Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara - TANGL, SCV001751545.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedcase-control PubMed (1)

Description

In silico algorithms classify this variant as definite pathogenic

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot provideddiscovery1not provided1not provided

Last Updated: Dec 24, 2023