NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 23, 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:: RCV001372973.7

Allele description [Variation Report for NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)]

NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)

HGVS:

NC_000023.11:g.154362308C>A
NG_011506.2:g.17331G>T
NM_001110556.1:c.2590G>T
NM_001110556.2:c.2590G>TMANE SELECT
NM_001456.4:c.2590G>T
NP_001104026.1:p.Val864Phe
NP_001447.2:p.Val864Phe
LRG_1340t1:c.2590G>T
LRG_1340:g.17331G>T
LRG_1340p1:p.Val864Phe
NC_000023.10:g.153590676C>A
NM_001456.3:c.2590G>T

Protein change:

V864F

Links:

dbSNP: rs1557178198

NCBI 1000 Genomes Browser:

rs1557178198

Molecular consequence:

NM_001110556.2:c.2590G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001456.4:c.2590G>T - 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

Recent activity

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aspartate-semialdehyde dehydrogenase [Oribacterium asaccharolyticum]
aspartate-semialdehyde dehydrogenase [Oribacterium asaccharolyticum]
gi|497221972|ref|WP_009536234.1|

Protein
Protein Family Models for Protein (Select 500120522) (4)
Protein Family Models
Microbulbifer elongatus strain PORT2 Port-2_(paired)_trimmed_(paired)_contig_42,...
Microbulbifer elongatus strain PORT2 Port-2_(paired)_trimmed_(paired)_contig_42, whole genome shotgun sequence
gi|2279024649|ref|NZ_JACASI01000004 gnl|WGS:NZ_JACASI01|Port-2_(paired)_trimmed_(paired)_contig_42

Nucleotide
Microbulbifer elongatus strain PORT2 Port-2_(paired)_trimmed_(paired)_contig_43,...
Microbulbifer elongatus strain PORT2 Port-2_(paired)_trimmed_(paired)_contig_43, whole genome shotgun sequence
gi|2279024650|ref|NZ_JACASI01000004 gnl|WGS:NZ_JACASI01|Port-2_(paired)_trimmed_(paired)_contig_43

Nucleotide
Microbulbifer elongatus strain PORT2 Port-2_(paired)_trimmed_(paired)_contig_58,...
Microbulbifer elongatus strain PORT2 Port-2_(paired)_trimmed_(paired)_contig_58, whole genome shotgun sequence
gi|2279024668|ref|NZ_JACASI01000005 gnl|WGS:NZ_JACASI01|Port-2_(paired)_trimmed_(paired)_contig_58

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001569669	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 23, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001569669

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 23, 2022)

germline

clinical testing

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

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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001569669.4

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

#	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: Oct 13, 2024

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