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NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 15, 2021
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:
RCV002500606.8

Allele description [Variation Report for NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)]

NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)

Gene:
FLNA:filamin A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
Other names:
p.P2415S:CCT>TCT
HGVS:
  • NC_000023.11:g.154350097G>A
  • NG_011506.2:g.29542C>T
  • NM_001110556.2:c.7267C>TMANE SELECT
  • NM_001456.4:c.7243C>T
  • NP_001104026.1:p.Pro2423Ser
  • NP_001447.2:p.Pro2415Ser
  • NP_001447.2:p.Pro2415Ser
  • LRG_1340t1:c.7267C>T
  • LRG_1340:g.29542C>T
  • LRG_1340p1:p.Pro2423Ser
  • NC_000023.10:g.153578465G>A
  • NM_001110556.1:c.7267C>T
  • NM_001456.3:c.7243C>T
Protein change:
P2415S
Links:
dbSNP: rs200198847
NCBI 1000 Genomes Browser:
rs200198847
Molecular consequence:
  • NM_001110556.2:c.7267C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001456.4:c.7243C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac valvular dysplasia, X-linked (CVDPX)
Synonyms:
Valvular heart disease, congenital; Myxomatous valvular dystrophy, X-linked; Congenital valvular dysplasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010753; MedGen: C0262436; Orphanet: 1864; Orphanet: 75497; OMIM: 314400
Name:
FG syndrome 2 (FGS2)
Identifiers:
MONDO: MONDO:0010297; MedGen: C1845902; OMIM: 300321
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:
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (CIIPX)
Synonyms:
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT; Congenital idiopathic intestinal pseudoobstruction; CIIP X-linked
Identifiers:
MONDO: MONDO:0010232; MedGen: C2746068; Orphanet: 2301; OMIM: 300048
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 I (OPD1)
Synonyms:
OPD I SYNDROME; Oto-palato-digital syndrome type 1; Taybi syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010704; MedGen: C0265251; Orphanet: 669; OMIM: 311300
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:
Terminal osseous dysplasia-pigmentary defects syndrome
Synonyms:
ODPF SYNDROME; OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLE FRENULA; ODPD; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010279; MedGen: C1846129; Orphanet: 88630; OMIM: 300244
Name:
Frontometaphyseal dysplasia 1 (FMD1)
Identifiers:
MONDO: MONDO:0024550; MedGen: C4281559; Orphanet: 1826; OMIM: 305620

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002805780Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Dec 15, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002805780.1

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

Last Updated: Nov 24, 2024