NM_001110556.2(FLNA):c.374-13C>G AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 6, 2023
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:: RCV003803551.2

Allele description [Variation Report for NM_001110556.2(FLNA):c.374-13C>G]

NM_001110556.2(FLNA):c.374-13C>G

Gene:

FLNA:filamin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001110556.2(FLNA):c.374-13C>G

HGVS:

NC_000023.11:g.154368103G>C
NG_011506.2:g.11536C>G
NM_001110556.2:c.374-13C>GMANE SELECT
NM_001456.4:c.374-13C>G
LRG_1340t1:c.374-13C>G
LRG_1340:g.11536C>G
NC_000023.10:g.153596471G>C

Molecular consequence:

NM_001110556.2:c.374-13C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001456.4:c.374-13C>G - intron variant - [Sequence Ontology: SO:0001627]

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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ecotropic viral integration site 2B [Homo sapiens]
ecotropic viral integration site 2B [Homo sapiens]
gi|20070235|ref|NP_006486.2|

Protein
RecName: Full=Epithelial discoidin domain-containing receptor 1; Short=Epithelia...
RecName: Full=Epithelial discoidin domain-containing receptor 1; Short=Epithelial discoidin domain receptor 1; AltName: Full=CD167 antigen-like family member A; AltName: Full=Cell adhesion kinase; AltName: Full=Discoidin receptor tyrosine kinase; AltName: Full=HGK2; AltName: Full=Mammary carcinoma kinase 10; Short=MCK-10; AltName: Full=Protein-tyrosine kinase 3A; AltName: Full=Protein-tyrosine kinase RTK-6; AltName: Full=TRK E; AltName: Full=Tyrosine kinase DDR; AltName: Full=Tyrosine-protein kinase CAK; AltName: CD_antigen=CD167a; Flags: Precursor
gi|729008|sp|Q08345.1|DDR1_HUMAN

Protein
Nucleotide Links for Protein (Select 1917203475) (9)
Nucleotide
Conserved Domain Links for Protein (Select 1917203475) (2)
Conserved Domains

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004592130	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Feb 6, 2023)	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

SCV004592130

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Feb 6, 2023)

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, SCV004592130.1

#	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: Sep 29, 2024

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