NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 22, 2022
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:: RCV001381558.5

Allele description [Variation Report for NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)]

NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)

HGVS:

NC_000023.11:g.154370912_154370913insCGACACGTTCTCC
NG_008677.1:g.1485_1486insCGACACGTTCTCC
NG_011506.2:g.8727_8728insGAGAACGTGTCGG
NM_001110556.2:c.334_335insGAGAACGTGTCGGMANE SELECT
NM_001456.4:c.334_335insGAGAACGTGTCGG
NP_001104026.1:p.Glu112fs
NP_001447.2:p.Glu112fs
LRG_1340t1:c.334_335insGAGAACGTGTCGG
LRG_1340:g.8727_8728insGAGAACGTGTCGG
LRG_1340p1:p.Glu112fs
LRG_745:g.1485_1486insCGACACGTTCTCC
NC_000023.10:g.153599279_153599280insCCGACACGTTCTC
NC_000023.10:g.153599280_153599281insCGACACGTTCTCC

Protein change:

E112fs

Links:

dbSNP: rs2148121859

NCBI 1000 Genomes Browser:

rs2148121859

Molecular consequence:

NM_001110556.2:c.334_335insGAGAACGTGTCGG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001456.4:c.334_335insGAGAACGTGTCGG - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001579998	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 22, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 16684786, 20730588, 26471271, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001579998

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 22, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, et al.

Brain. 2006 Jul;129(Pt 7):1892-906. Epub 2006 May 9.

PubMed [citation]

PMID:: 16684786

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

de Wit MC, de Coo IF, Lequin MH, Halley DJ, Roos-Hesselink JW, Mancini GM.

Clin Res Cardiol. 2011 Jan;100(1):45-50. doi: 10.1007/s00392-010-0206-y. Epub 2010 Aug 22.

PubMed [citation]

PMID:: 20730588
PMCID:: PMC3022162

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001579998.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069630). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. This sequence change creates a premature translational stop signal (p.Glu112Glyfs*54) in the FLNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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