NM_001110556.2(FLNA):c.3876C>T (p.His1292=) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Aug 13, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000617532.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.3876C>T (p.His1292=)]

NM_001110556.2(FLNA):c.3876C>T (p.His1292=)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
Other names:
p.H1292H:CAC>CAT
HGVS:
  • NC_000023.11:g.154359835G>A
  • NG_011506.1:g.19804C>T
  • NG_011506.2:g.19804C>T
  • NM_001110556.2:c.3876C>TMANE SELECT
  • NM_001456.3:c.3876C>T
  • NP_001104026.1:p.His1292=
  • NP_001447.2:p.His1292=
  • LRG_1340t1:c.3876C>T
  • LRG_1340:g.19804C>T
  • LRG_1340p1:p.His1292=
  • NC_000023.10:g.153588203G>A
  • p.His1292His
Links:
dbSNP: rs199917719
NCBI 1000 Genomes Browser:
rs199917719
Molecular consequence:
  • NM_001110556.2:c.3876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001456.3:c.3876C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000738382Ambry Geneticscriteria provided, single submitter
Likely benign
(Aug 13, 2015)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Fetal phenotypes in otopalatodigital spectrum disorders.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, et al.

Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26404489

Details of each submission

From Ambry Genetics, SCV000738382.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Other strong data supporting benign classification

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

Last Updated: Aug 14, 2021

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