NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 28, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000198225.4

Allele description [Variation Report for NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)]

NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
Other names:
p.N2109S:AAC>AGC
HGVS:
  • NC_000023.11:g.154352801T>C
  • NG_011506.1:g.26838A>G
  • NG_011506.2:g.26838A>G
  • NM_001110556.2:c.6350A>GMANE SELECT
  • NM_001456.3:c.6326A>G
  • NP_001104026.1:p.Asn2117Ser
  • NP_001447.2:p.Asn2109Ser
  • LRG_1340t1:c.6350A>G
  • LRG_1340:g.26838A>G
  • LRG_1340p1:p.Asn2117Ser
  • NC_000023.10:g.153581169T>C
Protein change:
N2109S
Links:
dbSNP: rs375205247
NCBI 1000 Genomes Browser:
rs375205247
Molecular consequence:
  • NM_001110556.2:c.6350A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.3:c.6326A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000250397GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 28, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250397.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Asn2109Ser missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Asn2109Ser alters a position that is conserved through mammals in the Filamin 19 repeat domain of the FLNA protein. However, the amino acid substitution is conservative as both Asparagine and Serine are uncharged, polar amino acid residues. In addition, in silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Asn2109Ser is a disease-causing mutation or a rare benign variant.

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

Last Updated: Aug 14, 2021

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