NM_057175.5(NAA15):c.239_240del (p.His80fs) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 29, 2017
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:: RCV001266473.2

Allele description [Variation Report for NM_057175.5(NAA15):c.239_240del (p.His80fs)]

NM_057175.5(NAA15):c.239_240del (p.His80fs)

Gene:

NAA15:N-alpha-acetyltransferase 15, NatA auxiliary subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q31.1

Genomic location:

Preferred name:

NM_057175.5(NAA15):c.239_240del (p.His80fs)

HGVS:

NC_000004.12:g.139336947_139336948del
NG_053037.1:g.40481_40482del
NM_057175.5:c.239_240delMANE SELECT
NP_476516.1:p.His80fs
NC_000004.11:g.140258101_140258102del
NM_057175.3:c.239_240del
NM_057175.3:c.239_240delAT
NM_057175.4:c.239_240del
NM_057175.4:c.239_240delAT
NM_057175.5:c.239_240delATMANE SELECT

Protein change:

H80fs

Links:

OMIM: 608000.0004; dbSNP: rs779009256

NCBI 1000 Genomes Browser:

rs779009256

Molecular consequence:

NM_057175.5:c.239_240del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444648	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Sep 29, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444648

Ambry Genetics

criteria provided, single submitter

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

Pathogenic
(Sep 29, 2017)

germline

clinical testing

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

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
Unknown	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, et al.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

PubMed [citation]

PMID:: 29656860
PMCID:: PMC5986698

Details of each submission

From Ambry Genetics, SCV001444648.2

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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine