NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) AND none provided

Clinical significance:Likely benign (Last evaluated: Jul 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001282265.1

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)

Name:
none provided
Identifiers:
MedGen: CN235283

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001157350ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Jul 2, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001157350.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 14, 2021

Support Center