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NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val) AND Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 2022
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:
RCV003148050.1

Allele description [Variation Report for NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)]

NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)

Genes:
LOC130064472:ATAC-STARR-seq lymphoblastoid silent region 10636 [Gene]
LTBP4:latent transforming growth factor beta binding protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)
HGVS:
  • NC_000019.10:g.40601392C>T
  • NG_021201.1:g.13227C>T
  • NM_001042544.1:c.451+1215C>T
  • NM_001042545.2:c.5C>TMANE SELECT
  • NM_003573.2:c.340+1215C>T
  • NP_001036010.1:p.Ala2Val
  • NC_000019.9:g.41107298C>T
Protein change:
A2V
Molecular consequence:
  • NM_001042544.1:c.451+1215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003573.2:c.340+1215C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042545.2:c.5C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Synonyms:
URBAN-RIFKIN-DAVIS SYNDROME; Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities; Cutis laxa, autosomal recessive, type IC
Identifiers:
MONDO: MONDO:0013170; MedGen: C2750804; Orphanet: 221145; OMIM: 613177

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003835724Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 11, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV003835724.1

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

Last Updated: Oct 20, 2024