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NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 1, 2024
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:
RCV000465661.17

Allele description [Variation Report for NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)]

NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
Other names:
p.A1756T:GCC>ACC
HGVS:
  • NC_000023.11:g.154354639C>T
  • NG_011506.2:g.25000G>A
  • NM_001110556.2:c.5290G>AMANE SELECT
  • NM_001456.4:c.5266G>A
  • NP_001104026.1:p.Ala1764Thr
  • NP_001447.2:p.Ala1756Thr
  • LRG_1340t1:c.5290G>A
  • LRG_1340:g.25000G>A
  • LRG_1340p1:p.Ala1764Thr
  • NC_000023.10:g.153583007C>T
  • NM_001110556.1:c.5290G>A
  • NM_001456.3:c.5266G>A
  • P21333:p.Ala1764Thr
Protein change:
A1764T
Links:
UniProtKB: P21333#VAR_012835; dbSNP: rs57108893
NCBI 1000 Genomes Browser:
rs57108893
Molecular consequence:
  • NM_001110556.2:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.5266G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heterotopia, periventricular, X-linked dominant (PVNH1)
Synonyms:
PERIVENTRICULAR NODULAR HETEROTOPIA 1; X-linked periventricular heterotopia; Heterotopia familial nodular; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010233; MedGen: C1848213; Orphanet: 2149; Orphanet: 82004; OMIM: 300049
Name:
Melnick-Needles syndrome (MNS)
Synonyms:
Melnick-Needles osteodysplasty; Osteodysplasty of Melnick and Needles
Identifiers:
MONDO: MONDO:0010650; MedGen: C0025237; Orphanet: 2484; OMIM: 309350
Name:
Oto-palato-digital syndrome, type II (OPD2)
Synonyms:
OPD II SYNDROME; Oto-palato-digital syndrome type 2; Andre syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010571; MedGen: C1844696; Orphanet: 669; Orphanet: 90652; OMIM: 304120
Name:
Frontometaphyseal dysplasia (FMD1)
Identifiers:
MONDO: MONDO:0015942; MedGen: C0265293; OMIM: PS305620

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000556045Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Feb 1, 2024)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000556045.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024