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NM_001110556.2(FLNA):c.462G>T (p.Met154Ile) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 2018
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:
RCV000199904.1

Allele description [Variation Report for NM_001110556.2(FLNA):c.462G>T (p.Met154Ile)]

NM_001110556.2(FLNA):c.462G>T (p.Met154Ile)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.462G>T (p.Met154Ile)
Other names:
p.M154I:ATG>ATT
HGVS:
  • NC_000023.11:g.154368002C>A
  • NG_011506.2:g.11637G>T
  • NM_001110556.2:c.462G>TMANE SELECT
  • NM_001456.4:c.462G>T
  • NP_001104026.1:p.Met154Ile
  • NP_001447.2:p.Met154Ile
  • NP_001447.2:p.Met154Ile
  • LRG_1340t1:c.462G>T
  • LRG_1340:g.11637G>T
  • LRG_1340p1:p.Met154Ile
  • NC_000023.10:g.153596370C>A
  • NM_001456.3:c.462G>T
Protein change:
M154I
Links:
dbSNP: rs863223640
NCBI 1000 Genomes Browser:
rs863223640
Molecular consequence:
  • NM_001110556.2:c.462G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.462G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000250432GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 27, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250432.10

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

Description

The M154I variant 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across mammals, although Isoleucine is observed at this position in evolution. A missense mutation in a nearby residue (S149F) has been reported in association with periventricular heterotopia. However, the M154I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in CORTICAL-BRAIN

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

Last Updated: Apr 23, 2022