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

Clinical significance:Uncertain significance (Last evaluated: May 29, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000649146.2

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:
Myopathy, distal, 4 (MPD4)
Synonyms:
WILLIAMS DISTAL MYOPATHY
Identifiers:
MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065
Name:
Cardiomyopathy, familial hypertrophic, 26 (CMH26)
Identifiers:
MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047
Name:
Dilated Cardiomyopathy, Dominant
Identifiers:
MedGen: CN239310

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000770971Invitaecriteria provided, single submitter
Uncertain significance
(May 29, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000770971.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces proline with leucine at codon 679 of the FLNC protein (p.Pro679Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FLNC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 27, 2021

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