NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Apr 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000084521.13

Allele description [Variation Report for NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)]

NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)

Gene:

MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)

HGVS:

NC_000017.11:g.46010324T>G
NG_007398.2:g.120862T>G
NM_001123066.4:c.1842T>G
NM_001123067.4:c.750T>G
NM_001203251.2:c.736-3919T>G
NM_001203252.2:c.823-3919T>G
NM_001377265.1:c.2013T>GMANE SELECT
NM_001377266.1:c.1801-3919T>G
NM_001377267.1:c.736-3919T>G
NM_001377268.1:c.649-3919T>G
NM_005910.6:c.837T>G
NM_016834.5:c.663T>G
NM_016835.5:c.1788T>G
NM_016841.5:c.649-3919T>G
NP_001116538.2:p.Asn614Lys
NP_001116539.1:p.Asn250Lys
NP_001364194.1:p.Asn671Lys
NP_005901.2:p.Asn279Lys
NP_005901.2:p.Asn279Lys
NP_058518.1:p.Asn221Lys
NP_058519.3:p.Asn596Lys
LRG_660t1:c.1788T>G
LRG_660t2:c.2013T>G
LRG_660:g.120862T>G
LRG_660p1:p.Asn596Lys
LRG_660p2:p.Asn671Lys
NC_000017.10:g.44087690T>G
NG_007398.1:g.120904T>G
NM_005910.5:c.837T>G
P10636:p.Asn596Lys

Protein change:

N221K; ASN279LYS

Links:

UniProtKB: P10636#VAR_010346; OMIM: 157140.0009; dbSNP: rs63750756

NCBI 1000 Genomes Browser:

rs63750756

Molecular consequence:

NM_001203251.2:c.736-3919T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001203252.2:c.823-3919T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377266.1:c.1801-3919T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377267.1:c.736-3919T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001377268.1:c.649-3919T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_016841.5:c.649-3919T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001123066.4:c.1842T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001123067.4:c.750T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377265.1:c.2013T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005910.6:c.837T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016834.5:c.663T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016835.5:c.1788T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000116657	VIB Department of Molecular Genetics, University of Antwerp	no classification provided	not provided	unknown	not provided
SCV003823490	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 19, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005041137	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Apr 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000116657

VIB Department of Molecular Genetics, University of Antwerp

no classification provided

not provided

unknown

not provided

SCV003823490

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 19, 2021)

germline

clinical testing

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

SCV005041137

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Apr 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From VIB Department of Molecular Genetics, University of Antwerp, SCV000116657.1

#	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	unknown	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003823490.2

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV005041137.6

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

Description

MAPT: PP1:Strong, PS1, PM2, PS3:Moderate, PS4:Moderate

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

Last Updated: Oct 20, 2024

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