NM_001042492.3(NF1):c.61-4del AND Hereditary cancer-predisposing syndrome

Germline classification:: Benign (1 submission)
Last evaluated:: Oct 26, 2020
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:: RCV002255365.3

Allele description [Variation Report for NM_001042492.3(NF1):c.61-4del]

NM_001042492.3(NF1):c.61-4del

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.61-4del

HGVS:

NC_000017.11:g.31155979del
NG_009018.1:g.66003del
NM_000267.3:c.61-12delT
NM_000267.3:c.61-4del
NM_001042492.3:c.61-4delMANE SELECT
NM_001128147.3:c.61-4del
LRG_214t1:c.61-4del
LRG_214:g.66003del
NC_000017.10:g.29482989del
NC_000017.10:g.29482997del
NM_000267.3:c.61-12delT
NM_000267.3:c.61-4delT
NM_001042492.3:c.61-4del

Links:

dbSNP: rs551568608

NCBI 1000 Genomes Browser:

rs551568608

Molecular consequence:

NM_000267.3:c.61-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001042492.3:c.61-4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001128147.3:c.61-4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002527646	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Oct 26, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002527646

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Oct 26, 2020)

germline

curation

Citation Link

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	curation

Details of each submission

From Sema4, Sema4, SCV002527646.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

#	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: Jun 9, 2024

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