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NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) AND Angioedema, hereditary, 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 16, 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:
RCV001507295.2

Allele description [Variation Report for NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)]

NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)

Gene:
MYOF:myoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)
Other names:
MYOF, ARG217SER (rs1256778304)
HGVS:
  • NC_000010.11:g.93408865C>A
  • NM_013451.4:c.651G>TMANE SELECT
  • NM_133337.3:c.651G>T
  • NP_038479.1:p.Arg217Ser
  • NP_579899.1:p.Arg217Ser
  • NC_000010.10:g.95168622C>A
Protein change:
R217S; ARG217SER
Links:
OMIM: 604603.0001; dbSNP: rs1256778304
NCBI 1000 Genomes Browser:
rs1256778304
Molecular consequence:
  • NM_013451.4:c.651G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133337.3:c.651G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Angioedema, hereditary, 7
Identifiers:
MONDO: MONDO:0025713; MedGen: C5543526; OMIM: 619366

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001712267OMIM
no assertion criteria provided
Pathogenic
(Jun 16, 2021) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A myoferlin gain-of-function variant associates with a new type of hereditary angioedema.

Ariano A, D'Apolito M, Bova M, Bellanti F, Loffredo S, D'Andrea G, Intrieri M, Petraroli A, Maffione AB, Spadaro G, Santacroce R, Margaglione M.

Allergy. 2020 Nov;75(11):2989-2992. doi: 10.1111/all.14454. Epub 2020 Jul 1. No abstract available.

PubMed [citation]
PMID:
32542751

Details of each submission

From OMIM, SCV001712267.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 affected female members of an Italian family with hereditary angioedema-7 (HAE7; 619366), Ariano et al. (2020) identified a heterozygous c.651G-T transversion (c.651G-T, NM_013451.4) in exon 7 of the MYOF gene, resulting in an arg217-to-ser (R217S) substitution in the C2B domain. The mutation, which was found by whole-exome sequencing, segregated with the disorder in the family. One unaffected female family member also carried the mutation, suggesting incomplete penetrance. The variant was not present in the gnomAD database. In vitro functional expression studies of the variant in HEK293 cells showed that the mutant protein localized mainly to the plasma membrane and colocalized with VEGFR2 (191306) greater than that observed with wildtype. The authors suggested that increased expression of VEGFR2 at the endothelial cell membrane could cause increased VEGF-mediated intracellular signaling that may lead to vascular leakage.

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

Last Updated: Jun 9, 2024