NM_005022.4(PFN1):c.37G>A (p.Ala13Thr) AND Amyotrophic lateral sclerosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2020
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:: RCV001095491.1

Allele description [Variation Report for NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)]

NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)

Gene:

PFN1:profilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

Preferred name:

NM_005022.4(PFN1):c.37G>A (p.Ala13Thr)

HGVS:

NC_000017.11:g.4948358C>T
NG_012063.2:g.7268C>T
NG_032945.1:g.5729G>A
NM_001375991.1:c.37G>A
NM_005022.4:c.37G>AMANE SELECT
NP_001362920.1:p.Ala13Thr
NP_005013.1:p.Ala13Thr
NC_000017.10:g.4851653C>T

Protein change:

A13T

Links:

dbSNP: rs763837842

NCBI 1000 Genomes Browser:

rs763837842

Molecular consequence:

NM_001375991.1:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005022.4:c.37G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Amyotrophic lateral sclerosis (ALS)
Synonyms:: Lou Gehrig disease; Charcot disease
Identifiers:: MONDO: MONDO:0004976; MedGen: C0002736; Human Phenotype Ontology: HP:0007354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001251085	Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 31, 2020)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001251085

Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 31, 2020)

germline

research

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	1	not provided	not provided	not provided	not provided	research

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 Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University, SCV001251085.1

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

Last Updated: Apr 23, 2022

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