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NM_003239.5(TGFB3):c.321dup (p.Phe108fs) AND Rienhoff syndrome

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV000509830.4

Allele description [Variation Report for NM_003239.5(TGFB3):c.321dup (p.Phe108fs)]

NM_003239.5(TGFB3):c.321dup (p.Phe108fs)

Gene:
TGFB3:transforming growth factor beta 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_003239.5(TGFB3):c.321dup (p.Phe108fs)
HGVS:
  • NC_000014.9:g.75980575dup
  • NG_011715.1:g.6177dup
  • NM_001329938.2:c.321dup
  • NM_001329939.2:c.321dup
  • NM_003239.5:c.321dupMANE SELECT
  • NP_001316867.1:p.Phe108fs
  • NP_001316868.1:p.Phe108fs
  • NP_003230.1:p.Phe108fs
  • NP_003230.1:p.Phe108fs
  • LRG_399:g.6177dup
  • NC_000014.8:g.76446918dup
  • NM_003239.4:c.321dup
Protein change:
F108fs
Links:
dbSNP: rs1555361385
NCBI 1000 Genomes Browser:
rs1555361385
Molecular consequence:
  • NM_001329938.2:c.321dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001329939.2:c.321dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003239.5:c.321dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Rienhoff syndrome
Synonyms:
Loeys-Dietz syndrome 5
Identifiers:
MONDO: MONDO:0014262; MedGen: C3810012; OMIM: 615582

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Clinical Genetics and Genomics, Karolinska University Hospital, SCV000607739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

Clinical diagnosis LDS i family, AD inheritance.

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607739Clinical Genetics and Genomics, Karolinska University Hospital
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV000607739 appears to be redundant with SCV001449760.

(ACMG Guidelines, 2015)		Pathogenic
(Oct 19, 2017) 		unknownclinical testing

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

Last Updated: Feb 4, 2024