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NM_000505.4(F12):c.1018+19del AND Hereditary angioedema type 3

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 10, 2021
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:
RCV001702132.2

Allele description [Variation Report for NM_000505.4(F12):c.1018+19del]

NM_000505.4(F12):c.1018+19del

Gene:
F12:coagulation factor XII [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_000505.4(F12):c.1018+19del
HGVS:
  • NC_000005.10:g.177404185del
  • NG_007568.1:g.10400del
  • NM_000505.4:c.1018+19delMANE SELECT
  • LRG_145t1:c.1018+19del
  • LRG_145:g.10400del
  • NC_000005.9:g.176831178del
  • NC_000005.9:g.176831186del
  • NM_000505.3:c.1018+19del
Links:
dbSNP: rs35966430
NCBI 1000 Genomes Browser:
rs35966430
Molecular consequence:
  • NM_000505.4:c.1018+19del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary angioedema type 3 (HAE3)
Synonyms:
ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION; ESTROGEN-RELATED HAE; ESTROGEN-SENSITIVE HAE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012526; MedGen: C1857728; OMIM: 610618

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001933685Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Aug 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV001933685.1

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

Last Updated: Sep 29, 2024