NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Nov 29, 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:: RCV000084414.4

Allele description [Variation Report for NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser)]

NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser)

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.1306C>T (p.Pro436Ser)

HGVS:

NC_000014.9:g.73219191C>T
NG_007386.2:g.87721C>T
NM_000021.4:c.1306C>TMANE SELECT
NM_007318.3:c.1294C>T
NP_000012.1:p.Pro436Ser
NP_015557.2:p.Pro432Ser
LRG_224t1:c.1306C>T
LRG_224:g.87721C>T
LRG_224p1:p.Pro436Ser
NC_000014.8:g.73685899C>T
NM_000021.3:c.1306C>T
P49768:p.Pro436Ser

Protein change:

P432S

Links:

UniProtKB: P49768#VAR_008141; dbSNP: rs63749925

NCBI 1000 Genomes Browser:

rs63749925

Molecular consequence:

NM_000021.4:c.1306C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007318.3:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000116550	VIB Department of Molecular Genetics, University of Antwerp	no classification provided	not provided	not provided	not provided
SCV002770888	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Likely pathogenic (Nov 29, 2021)	unknown	clinical testing	PubMed (11) [See all records that cite these PMIDs] 10090481, 27930341, 20460383, 34220489, 30042426, 27777022, 26756738, 18491041, 15056474, 31235249, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116550

VIB Department of Molecular Genetics, University of Antwerp

no classification provided

not provided

SCV002770888

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Likely pathogenic
(Nov 29, 2021)

unknown

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Description

http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg18&id=ADM_89: SCV000116550

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

See all PubMed Citations (11)

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116550.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Athena Diagnostics, SCV002770888.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. Multiple studies demonstrate this variant results in an increase to the amyloid-beta-42/40 production ratio (PMID: 15056474, 20460383, 27930341, 30042426, 31235249).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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