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NM_057175.5(NAA15):c.143C>A (p.Thr48Asn) AND Intellectual disability, autosomal dominant 50

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 25, 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:
RCV001779383.1

Allele description [Variation Report for NM_057175.5(NAA15):c.143C>A (p.Thr48Asn)]

NM_057175.5(NAA15):c.143C>A (p.Thr48Asn)

Gene:
NAA15:N-alpha-acetyltransferase 15, NatA auxiliary subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.1
Genomic location:
Preferred name:
NM_057175.5(NAA15):c.143C>A (p.Thr48Asn)
HGVS:
  • NC_000004.12:g.139336851C>A
  • NG_053037.1:g.40385C>A
  • NM_057175.5:c.143C>AMANE SELECT
  • NP_476516.1:p.Thr48Asn
  • NC_000004.11:g.140258005C>A
  • NM_057175.3:c.143C>A
Protein change:
T48N
Links:
dbSNP: rs764328356
NCBI 1000 Genomes Browser:
rs764328356
Molecular consequence:
  • NM_057175.5:c.143C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability, autosomal dominant 50
Synonyms:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES
Identifiers:
MONDO: MONDO:0030916; MedGen: C4540470; OMIM: 617787

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0020147223billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 25, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not 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 3billion, SCV002014722.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This varant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.661, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023