NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs) AND Charcot-Marie-tooth disease, axonal, type 2DD

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 18, 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:: RCV001290135.5

Allele description [Variation Report for NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)]

NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)

Genes:

ATP1A1-AS1:ATP1A1 antisense RNA 1 [Gene - OMIM - HGNC]
ATP1A1:ATPase Na+/K+ transporting subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p13.1

Genomic location:

Preferred name:

NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)

HGVS:

NC_000001.11:g.116401220_116401230del
NG_047036.1:g.34036_34046del
NM_000701.8:c.2809_2819delMANE SELECT
NM_001160233.2:c.2809_2819del
NM_001160234.2:c.2716_2726del
NP_000692.2:p.Cys937fs
NP_001153705.1:p.Cys937fs
NP_001153706.1:p.Cys906fs
NC_000001.10:g.116943842_116943852del

Protein change:

C906fs

Links:

dbSNP: rs1653448255

NCBI 1000 Genomes Browser:

rs1653448255

Molecular consequence:

NM_000701.8:c.2809_2819del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160233.2:c.2809_2819del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160234.2:c.2716_2726del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Charcot-Marie-tooth disease, axonal, type 2DD
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD
Identifiers:: MONDO: MONDO:0054833; MedGen: C4747974; OMIM: 618036

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001469117	Institute of Human Genetics, University of Goettingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 18, 2021)	unknown	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

SCV001469117

Institute of Human Genetics, University of Goettingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 18, 2021)

unknown

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
Non-Finnish European	unknown	unknown	1	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, University of Goettingen, SCV001469117.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Non-Finnish European	1	not provided	not provided	clinical testing	PubMed (1)

Description

The variant c.2809_2819del (p.(Cys937Glufs*20)) in exon 20 of the ATP1A1-gene is not found in known databases (ExAC or gnomAD) and leads to a frameshift within the coding sequence of the ATP1A1-gene, within a protein domain, resulting in a truncated protein. Thus, we classify this variant as a likely pathogenic varaint. ACMG criteria used for classification: PVS1, PM2.

#	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		1	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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