NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Dec 6, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001080902.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)]

NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
Other names:
p.T1305T:ACG>ACA
HGVS:
  • NC_000023.11:g.154359796C>T
  • NG_011506.1:g.19843G>A
  • NG_011506.2:g.19843G>A
  • NM_001110556.2:c.3915G>AMANE SELECT
  • NM_001456.3:c.3915G>A
  • NP_001104026.1:p.Thr1305=
  • NP_001447.2:p.Thr1305=
  • LRG_1340t1:c.3915G>A
  • LRG_1340:g.19843G>A
  • LRG_1340p1:p.Thr1305=
  • NC_000023.10:g.153588164C>T
  • p.Thr1305Thr
Links:
dbSNP: rs201488545
NCBI 1000 Genomes Browser:
rs201488545
Molecular consequence:
  • NM_001110556.2:c.3915G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001456.3:c.3915G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Periventricular nodular heterotopia 1 (PVNH1)
Synonyms:
X-linked periventricular heterotopia; Heterotopia periventricular X-linked dominant; 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
SCV000287147Invitaecriteria provided, single submitter
Likely benign
(Dec 6, 2020)
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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000287147.7

#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: Aug 25, 2021

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