NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 30, 2016
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:: RCV000190675.13

Allele description [Variation Report for NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)]

NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)

Gene:

NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)

HGVS:

NC_000023.11:g.153932410G>A
NG_031987.1:g.7745C>T
NM_001256119.2:c.247C>T
NM_001256120.2:c.229C>T
NM_003491.4:c.247C>TMANE SELECT
NP_001243048.1:p.Arg83Cys
NP_001243049.1:p.Arg77Cys
NP_003482.1:p.Arg83Cys
NC_000023.10:g.153197863G>A
NM_003491.2:c.247C>T
NM_003491.3:c.247C>T

Protein change:

R77C; ARG83CYS

Links:

OMIM: 300013.0010

Molecular consequence:

NM_001256119.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001256120.2:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003491.4:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000244115	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Mar 30, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 27094817, 31174490 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000244115

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Mar 30, 2016)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Caucasian/Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, et al.

Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4.

PubMed [citation]

PMID:: 27094817
PMCID:: PMC5084832

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

Ree R, Geithus AS, Tørring PM, Sørensen KP, Damkjær M; DDD study., Lynch SA, Arnesen T.

BMC Med Genet. 2019 Jun 7;20(1):101. doi: 10.1186/s12881-019-0803-1.

PubMed [citation]

PMID:: 31174490
PMCID:: PMC6554967

Details of each submission

From Ambry Genetics, SCV000244115.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)
2	Caucasian/Hispanic	1	not provided	not provided	clinical testing	PubMed (2)
3	Hispanic	1	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: Nov 10, 2024

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