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NM_001458.5(FLNC):c.5670G>A (p.Gly1890=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 18, 2022
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:
RCV001823749.1

Allele description [Variation Report for NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)]

NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)

Genes:
FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)
HGVS:
  • NC_000007.14:g.128851456G>A
  • NG_011807.1:g.26028G>A
  • NM_001127487.2:c.5571G>A
  • NM_001458.5:c.5670G>AMANE SELECT
  • NP_001120959.1:p.Gly1857=
  • NP_001449.3:p.Gly1890=
  • NP_001449.3:p.Gly1890=
  • LRG_870t1:c.5670G>A
  • LRG_870:g.26028G>A
  • LRG_870p1:p.Gly1890=
  • NC_000007.13:g.128491510G>A
  • NM_001458.4:c.5670G>A
  • NR_149055.1:n.260C>T
Links:
dbSNP: rs369881758
NCBI 1000 Genomes Browser:
rs369881758
Molecular consequence:
  • NR_149055.1:n.260C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001127487.2:c.5571G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001458.5:c.5670G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073458Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jan 18, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Phosphorus, Inc., SCV002073458.1

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

Description

This synonymous variant is a silent variation that is not predicted to change the amino acid sequence of the protein and has occurred in gnomAD with a total MAF of 0.0004% and with the highest MAF of 0.0009% in the European population. This variant has been reported in ClinVar (707521) NM_001458.5(FLNC):c.5670G>A (p.Gly1890=). This position is not conserved. In silico splicing algorithms predicted no impact on splicing (dbscSNV= 0.09799). The variant has not occurred in the literature in the association with the disease. Considering it is a synonymous change that does not have an apparent effect on RNA splicing machinery, the variant has been classified as Likely Benign.

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

Last Updated: Sep 29, 2024