NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu) AND Developmental delay with or without dysmorphic facies and autism

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 20, 2023
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:: RCV003223542.2

Allele description [Variation Report for NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu)]

NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu)

Gene:

TRRAP:transformation/transcription domain associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu)

HGVS:

NC_000007.14:g.98955183C>T
NG_030010.1:g.81694C>T
NM_001244580.2:c.5795C>T
NM_001375524.1:c.5816C>TMANE SELECT
NM_003496.4:c.5741C>T
NP_001231509.1:p.Pro1932Leu
NP_001362453.1:p.Pro1939Leu
NP_003487.1:p.Pro1914Leu
NC_000007.13:g.98552806C>T
NM_001244580.1:c.5795C>T

Protein change:

P1914L

Links:

dbSNP: rs2484874664

NCBI 1000 Genomes Browser:

rs2484874664

Molecular consequence:

NM_001244580.2:c.5795C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001375524.1:c.5816C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003496.4:c.5741C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental delay with or without dysmorphic facies and autism
Identifiers:: MONDO: MONDO:0032760; MedGen: C5193106; OMIM: 618454

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919077	Duke University Health System Sequencing Clinic, Duke University Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 20, 2023)	maternal	research	PubMed (2) [See all records that cite these PMIDs] 30827496, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919077

Duke University Health System Sequencing Clinic, Duke University Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 20, 2023)

maternal

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, et al.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

PubMed [citation]

PMID:: 30827496
PMCID:: PMC6407527

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 Duke University Health System Sequencing Clinic, Duke University Health System, SCV003919077.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

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

Last Updated: May 16, 2025

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