NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) AND Amyotrophic lateral sclerosis type 10

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Dec 18, 2020
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:: RCV000995885.11

Allele description [Variation Report for NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)]

NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)

Gene:

TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)

HGVS:

NC_000001.11:g.11022556A>G
NG_008734.1:g.14935A>G
NM_007375.4:c.1147A>GMANE SELECT
NP_031401.1:p.Ile383Val
NP_031401.1:p.Ile383Val
LRG_659t1:c.1147A>G
LRG_659:g.14935A>G
LRG_659p1:p.Ile383Val
NC_000001.10:g.11082613A>G
NM_007375.3:c.1147A>G

Protein change:

I383V

Links:

dbSNP: rs80356740

NCBI 1000 Genomes Browser:

rs80356740

Molecular consequence:

NM_007375.4:c.1147A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Amyotrophic lateral sclerosis type 10 (ALS10)
Synonyms:: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; TARDBP-Related Amyotrophic Lateral Sclerosis; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012790; MedGen: C2677565; Orphanet: 275872; Orphanet: 803; OMIM: 612069

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001150275	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jan 22, 2018)	germline	clinical testing	Citation Link,
SCV001251066	Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 31, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV002018927	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 18, 2020)	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

SCV001150275

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jan 22, 2018)

germline

clinical testing

Citation Link,

SCV001251066

Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 31, 2020)

germline

research

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

SCV002018927

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 18, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	1	not provided	clinical testing, research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001150275.1

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

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

From Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University, SCV001251066.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	research	PubMed (1)

#	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		2	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002018927.3

#	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: Oct 20, 2024

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