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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 2022
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:
RCV002252040.9

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]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523044Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 24, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PS3, PS4, PM2, PM6

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024