NM_001042492.3(NF1):c.7189+7A>G AND multiple conditions

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 24, 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:: RCV002483789.1

Allele description [Variation Report for NM_001042492.3(NF1):c.7189+7A>G]

NM_001042492.3(NF1):c.7189+7A>G

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.7189+7A>G

HGVS:

NC_000017.11:g.31343142A>G
NG_009018.1:g.253166A>G
NM_000267.3:c.7126+7A>G
NM_001042492.3:c.7189+7A>GMANE SELECT
LRG_214t1:c.7126+7A>G
LRG_214:g.253166A>G
NC_000017.10:g.29670160A>G
NM_001042492.2:c.7189+7A>G

Links:

dbSNP: rs767151173

NCBI 1000 Genomes Browser:

rs767151173

Molecular consequence:

NM_000267.3:c.7126+7A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001042492.3:c.7189+7A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Neurofibromatosis, familial spinal (FSNF)
Identifiers:: MONDO: MONDO:0008078; MedGen: C1834235; Orphanet: 636; OMIM: 162210

Name:: Juvenile myelomonocytic leukemia (JMML)
Synonyms:: LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
Identifiers:: MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

Name:: Neurofibromatosis-Noonan syndrome (NFNS)
Synonyms:: Neurofibromatosis with Noonan phenotype
Identifiers:: MONDO: MONDO:0011035; MedGen: C2931482; Orphanet: 638; OMIM: 601321

Name:: Café-au-lait macules with pulmonary stenosis (WTSN)
Synonyms:: Pulmonic stenosis with cafe-au-lait spots
Identifiers:: MONDO: MONDO:0008672; MedGen: C0553586; OMIM: 193520

Recent activity

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Obox4-ps7 oocyte specific homeobox 4, pseudogene 7 [Mus musculus]
Obox4-ps7 oocyte specific homeobox 4, pseudogene 7 [Mus musculus]
Gene ID:106780813

Gene
Obox4-ps7 AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002803498	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 24, 2021)	unknown	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

SCV002803498

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Nov 24, 2021)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV002803498.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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