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NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu) AND Hernia, anterior diaphragmatic

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 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:
RCV003985065.1

Allele description [Variation Report for NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)]

NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)

Gene:
PLS3:plastin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq23
Genomic location:
Preferred name:
NM_005032.7(PLS3):c.1090A>G (p.Lys364Glu)
HGVS:
  • NC_000023.11:g.115643415A>G
  • NG_012518.2:g.87537A>G
  • NM_001136025.5:c.1090A>G
  • NM_001172335.3:c.1009A>G
  • NM_001282337.2:c.1051A>G
  • NM_001282338.2:c.955A>G
  • NM_005032.7:c.1090A>GMANE SELECT
  • NP_001129497.1:p.Lys364Glu
  • NP_001165806.1:p.Lys337Glu
  • NP_001269266.1:p.Lys351Glu
  • NP_001269267.1:p.Lys319Glu
  • NP_005023.2:p.Lys364Glu
  • NC_000023.10:g.114877727A>G
Protein change:
K319E
Molecular consequence:
  • NM_001136025.5:c.1090A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172335.3:c.1009A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282337.2:c.1051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282338.2:c.955A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005032.7:c.1090A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hernia, anterior diaphragmatic (DIH5)
Identifiers:
MONDO: MONDO:0010606; MedGen: C1844025; Orphanet: 2140; OMIM: 306950

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004801368SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 3, 2024) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, et al.

Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25.

PubMed [citation]
PMID:
37751738
PMCID:
PMC10577083

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 SIB Swiss Institute of Bioinformatics, SCV004801368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted for Diaphragmatic hernia 5, X-linked. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in gnomAD (PM2). Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).

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

Last Updated: Mar 23, 2024