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NM_001375524.1(TRRAP):c.5937+2T>C AND Developmental delay with or without dysmorphic facies and autism

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 2024
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:
RCV002470539.2

Allele description [Variation Report for NM_001375524.1(TRRAP):c.5937+2T>C]

NM_001375524.1(TRRAP):c.5937+2T>C

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.5937+2T>C
HGVS:
  • NC_000007.14:g.98955306T>C
  • NG_030010.1:g.81817T>C
  • NM_001244580.2:c.5916+2T>C
  • NM_001375524.1:c.5937+2T>CMANE SELECT
  • NM_003496.4:c.5862+2T>C
  • NC_000007.13:g.98552929T>C
  • NM_003496.3:c.5862+2T>C
Molecular consequence:
  • NM_001244580.2:c.5916+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001375524.1:c.5937+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003496.4:c.5862+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002768689Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 10, 2024) 		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 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, SCV002768689.2

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

Description

Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as VUS-3C. Following criteria are met: 0102 - Loss-of-function is a likely mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available) (intron 39 of 70). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (P) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0807 - Variant has not previously been reported in a clinical context. (N) 0904 - Non-segregation has been clearly demonstrated. (B) 1007 - No published functional evidence has been identified for this variant. (N) 1205 - Variant is maternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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

Last Updated: Nov 30, 2024