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NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 2023
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:
RCV004035004.1

Allele description [Variation Report for NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)]

NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)

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.4468C>T (p.Pro1490Ser)
HGVS:
  • NC_000007.14:g.128847956C>T
  • NG_011807.1:g.22528C>T
  • NM_001127487.2:c.4468C>T
  • NM_001458.4:c.4468C>T
  • NM_001458.5:c.4468C>TMANE SELECT
  • NP_001120959.1:p.Pro1490Ser
  • NP_001449.3:p.Pro1490Ser
  • LRG_870t1:c.4468C>T
  • LRG_870:g.22528C>T
  • NC_000007.13:g.128488010C>T
Protein change:
P1490S
Links:
dbSNP: rs754076573
NCBI 1000 Genomes Browser:
rs754076573
Molecular consequence:
  • NM_001127487.2:c.4468C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.4468C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005017736Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 17, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O, Lesurf R; Genomics England Research Consortium., Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S.

J Cardiovasc Transl Res. 2023 Dec;16(6):1287-1302. doi: 10.1007/s12265-023-10411-8. Epub 2023 Jul 21.

PubMed [citation]
PMID:
37477868
PMCID:
PMC10721711

Details of each submission

From Ambry Genetics, SCV005017736.1

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

Description

The p.P1490S variant (also known as c.4468C>T), located in coding exon 26 of the FLNC gene, results from a C to T substitution at nucleotide position 4468. The proline at codon 1490 is replaced by serine, an amino acid with similar properties. This variant has been reported in a cardiomyopathy cohort (Akinrinade O et al. J Cardiovasc Transl Res, 2023 Jul;[ePub ahead of print]). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024