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NM_001080451.2(SERPINA11):c.643+1G>A AND Non-immune hydrops fetalis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 29, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001844396.3

Allele description [Variation Report for NM_001080451.2(SERPINA11):c.643+1G>A]

NM_001080451.2(SERPINA11):c.643+1G>A

Gene:
SERPINA11:serpin family A member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_001080451.2(SERPINA11):c.643+1G>A
HGVS:
  • NC_000014.9:g.94448131C>T
  • NM_001080451.2:c.643+1G>AMANE SELECT
  • NC_000014.8:g.94914468C>T
Links:
dbSNP: rs148495961
NCBI 1000 Genomes Browser:
rs148495961
Molecular consequence:
  • NM_001080451.2:c.643+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Non-immune hydrops fetalis (NIHF)
Synonyms:
Idiopathic hydrops fetalis; Familial non-immune hydrops fetalis; Fetal edema
Identifiers:
MONDO: MONDO:0009369; MedGen: C0455988; OMIM: 236750; Human Phenotype Ontology: HP:0001790

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001870520Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
no assertion criteria provided
Uncertain significance
(Apr 29, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001870520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024