NM_020410.3(ATP13A1):c.1122C>T (p.Asp374=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 5, 2018
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:: RCV000929467.3

Allele description

NM_020410.3(ATP13A1):c.1122C>T (p.Asp374=)

Gene:

ATP13A1:ATPase 13A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_020410.3(ATP13A1):c.1122C>T (p.Asp374=)

HGVS:

NC_000019.10:g.19656145G>A
NM_020410.3:c.1122C>TMANE SELECT
NP_065143.2:p.Asp374=
NC_000019.9:g.19766954G>A
NM_020410.2:c.1122C>T

Links:

dbSNP: rs771427339

NCBI 1000 Genomes Browser:

rs771427339

Molecular consequence:

NM_020410.3:c.1122C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

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myotubularin-related protein 6 isoform X3 [Homo sapiens]
myotubularin-related protein 6 isoform X3 [Homo sapiens]
gi|2462538390|ref|XP_054231144.1|

Protein
PREDICTED: Homo sapiens myotubularin related protein 6 (MTMR6), transcript varia...
PREDICTED: Homo sapiens myotubularin related protein 6 (MTMR6), transcript variant X2, mRNA
gi|2462538387|ref|XM_054375168.1|

Nucleotide
Biographical Sketches of Committee Members - Monitoring HIV Care in the United S...
Biographical Sketches of Committee Members - Monitoring HIV Care in the United States
RecName: Full=Target of EGR1 protein 1
RecName: Full=Target of EGR1 protein 1
gi|74751888|sp|Q96GM8.1|TOE1_HUMAN

Protein
AGENCOURT_31394036 NICHD_XGC_Te2 Xenopus laevis cDNA clone IMAGE:7393889 5', mRN...
AGENCOURT_31394036 NICHD_XGC_Te2 Xenopus laevis cDNA clone IMAGE:7393889 5', mRNA sequence
gi|51542637|gnl|dbEST|25178074|gb|C 06.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001075098	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jul 5, 2018)	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

SCV001075098

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jul 5, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001075098.1

#	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: Aug 23, 2022

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