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NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs) AND Exstrophy-epispadias complex

Germline classification:
Uncertain significance (1 submission)
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:
RCV003389428.1

Allele description [Variation Report for NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs)]

NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs)

Genes:
HSD11B1-AS1:HSD11B1 antisense RNA 1 [Gene - HGNC]
HSD11B1:hydroxysteroid 11-beta dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
1q32.2
Genomic location:
Preferred name:
NM_005525.4(HSD11B1):c.678_679insT (p.Val227fs)
HGVS:
  • NC_000001.11:g.209734320_209734321insT
  • NG_012081.1:g.53116_53117insT
  • NM_001206741.2:c.678_679insT
  • NM_005525.4:c.678_679insTMANE SELECT
  • NM_181755.3:c.678_679insT
  • NP_001193670.1:p.Val227fs
  • NP_005516.1:p.Val227fs
  • NP_861420.1:p.Val227fs
  • NC_000001.10:g.209907665_209907666insT
Protein change:
V227fs
Molecular consequence:
  • NM_001206741.2:c.678_679insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005525.4:c.678_679insT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181755.3:c.678_679insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Exstrophy-epispadias complex
Synonyms:
OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS; Omphalocele exstrophy imperforate anus; OEIS complex; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0017919; MedGen: C1850321; Orphanet: 322; Orphanet: 93929; OMIM: 258040

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004101645Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancede novocuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedcuration

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 Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine, SCV004101645.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2023