NM_000021.4(PSEN1):c.213G>A (p.Glu71=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Dec 2, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV002159689.4

Allele description [Variation Report for NM_000021.4(PSEN1):c.213G>A (p.Glu71=)]

NM_000021.4(PSEN1):c.213G>A (p.Glu71=)

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

Preferred name:

NM_000021.4(PSEN1):c.213G>A (p.Glu71=)

HGVS:

NC_000014.9:g.73170922G>A
NG_007386.2:g.39452G>A
NM_000021.4:c.213G>AMANE SELECT
NM_007318.3:c.201G>A
NP_000012.1:p.Glu71=
NP_015557.2:p.Glu67=
LRG_224t1:c.213G>A
LRG_224:g.39452G>A
LRG_224p1:p.Glu71=
NC_000014.8:g.73637630G>A

Molecular consequence:

NM_000021.4:c.213G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_007318.3:c.201G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Alzheimer disease 3
Synonyms:: Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Identifiers:: MONDO: MONDO:0011913; MedGen: C1843013; Orphanet: 1020; OMIM: 607822

Name:: Frontotemporal dementia (FTD)
Synonyms:: FRONTOTEMPORAL LOBE DEMENTIA; WILHELMSEN-LYNCH DISEASE; Dementia, frontotemporal, with parkinsonism; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0017276; MedGen: C0338451; Orphanet: 282; OMIM: 600274; Human Phenotype Ontology: HP:0002145

Name:: Pick disease
Synonyms:: PICK DISEASE OF BRAIN; LOBAR ATROPHY OF BRAIN; Pick's disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008243; MedGen: C0236642; Orphanet: 282; OMIM: 172700

Name:: Acne inversa, familial, 3 (ACNINV3)
Identifiers:: MONDO: MONDO:0013398; MedGen: C3151038; OMIM: 613737

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002340331	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Likely benign (Dec 2, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002340331

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Likely benign
(Dec 2, 2021)

germline

clinical testing

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

Summary from all submissions

Help

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002340331.2

#	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

Last Updated: Feb 7, 2023

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