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NM_014112.5(TRPS1):c.2700+29A>C AND Trichorhinophalangeal syndrome, type III

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 10, 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:
RCV001838587.3

Allele description [Variation Report for NM_014112.5(TRPS1):c.2700+29A>C]

NM_014112.5(TRPS1):c.2700+29A>C

Gene:
TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q23.3
Genomic location:
Preferred name:
NM_014112.5(TRPS1):c.2700+29A>C
HGVS:
  • NC_000008.11:g.115586972T>G
  • NG_012383.3:g.87030A>C
  • NM_001282902.3:c.2673+29A>C
  • NM_001282903.3:c.2679+29A>C
  • NM_001330599.2:c.2661+29A>C
  • NM_014112.5:c.2700+29A>CMANE SELECT
  • NC_000008.10:g.116599199T>G
  • NM_014112.3:c.2700+29A>C
Links:
dbSNP: rs2293889
NCBI 1000 Genomes Browser:
rs2293889
Molecular consequence:
  • NM_001282902.3:c.2673+29A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282903.3:c.2679+29A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330599.2:c.2661+29A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014112.5:c.2700+29A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Trichorhinophalangeal syndrome, type III (TRPS3)
Synonyms:
Trichorhinophalangeal syndrome type 3; TRPS 3; Sugio-Kajii Syndrome
Identifiers:
MONDO: MONDO:0008597; MedGen: C1860823; Orphanet: 77258; OMIM: 190351

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002098851Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002098851.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024