NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) AND multiple conditions

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001535634.1

Allele description [Variation Report for NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)]

NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)

Gene:
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)
HGVS:
  • NC_000007.14:g.128841482C>T
  • NG_011807.1:g.16054C>T
  • NM_001127487.2:c.2036C>T
  • NM_001458.4:c.2036C>T
  • NM_001458.5:c.2036C>TMANE SELECT
  • NP_001120959.1:p.Pro679Leu
  • NP_001449.3:p.Pro679Leu
  • NP_001449.3:p.Pro679Leu
  • LRG_870t1:c.2036C>T
  • LRG_870:g.16054C>T
  • LRG_870p1:p.Pro679Leu
  • NC_000007.13:g.128481536C>T
Protein change:
P679L
Links:
dbSNP: rs975517733
NCBI 1000 Genomes Browser:
rs975517733
Molecular consequence:
  • NM_001127487.2:c.2036C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.2036C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.2036C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myofibrillar myopathy, filamin C-related (MFM5)
Synonyms:
FILAMINOPATHY, AUTOSOMAL DOMINANT; MYOPATHY, MYOFIBRILLAR, 5; Filaminopathy (type)
Identifiers:
MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600
Name:
Myopathy, distal, 4 (MPD4)
Synonyms:
WILLIAMS DISTAL MYOPATHY
Identifiers:
MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001749662GenomeConnect - Invitae Patient Insights Networkno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749662.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 12-08-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Nov 27, 2021

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