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NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 2, 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:
RCV002407181.1

Allele description

NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)

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.1069C>T (p.Gln357Ter)
HGVS:
  • NC_000007.14:g.128838288C>T
  • NG_011807.1:g.12860C>T
  • NM_001127487.2:c.1069C>T
  • NM_001458.5:c.1069C>TMANE SELECT
  • NP_001120959.1:p.Gln357Ter
  • NP_001449.3:p.Gln357Ter
  • LRG_870t1:c.1069C>T
  • LRG_870:g.12860C>T
  • NC_000007.13:g.128478342C>T
  • NM_001458.4:c.1069C>T
Protein change:
Q357*
Links:
dbSNP: rs2128934390
NCBI 1000 Genomes Browser:
rs2128934390
Molecular consequence:
  • NM_001127487.2:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001458.5:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV002720677Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Aug 2, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002720677.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Q357* pathogenic mutation (also known as c.1069C>T), located in coding exon 7 of the FLNC gene, results from a C to T substitution at nucleotide position 1069. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 28, 2024