NM_001042492.3(NF1):c.2970_2972del (p.Met992del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 19, 2015
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:: RCV000215737.12

Allele description [Variation Report for NM_001042492.3(NF1):c.2970_2972del (p.Met992del)]

NM_001042492.3(NF1):c.2970_2972del (p.Met992del)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.2970_2972del (p.Met992del)

HGVS:

NC_000017.11:g.31229954_31229956del
NG_009018.1:g.139978_139980del
NM_000267.3:c.2970_2972del
NM_001042492.3:c.2970_2972delMANE SELECT
NP_000258.1:p.Met992del
NP_001035957.1:p.Met992del
LRG_214t1:c.2970_2972del
LRG_214:g.139978_139980del
LRG_214p1:p.Met992del
NC_000017.10:g.29556972_29556974del
NC_000017.10:g.29556972_29556974delAAT
NM_000267.3:c.2970_2972delAAT
NM_001042492.2:c.2970_2972delAAT
NM_001042492.3:c.2970_2972del

Protein change:

M992del

Links:

OMIM: 613113.0033; dbSNP: rs267606606

NCBI 1000 Genomes Browser:

rs267606606

Molecular consequence:

NM_000267.3:c.2970_2972del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042492.3:c.2970_2972del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

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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Treponema denticola ATCC 35405
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000273607	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Pathogenic (Jan 19, 2015)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 17160901, 20602485, 21532985, 23047742, 23656349, 7904209 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000273607

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Pathogenic
(Jan 19, 2015)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, et al.

Am J Hum Genet. 2007 Jan;80(1):140-51. Epub 2006 Dec 8.

PubMed [citation]

PMID:: 17160901
PMCID:: PMC1785321

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1.

Muram-Zborovski TM, Vaughn CP, Viskochil DH, Hanson H, Mao R, Stevenson DA.

Am J Med Genet A. 2010 Aug;152A(8):1973-8. doi: 10.1002/ajmg.a.33525.

PubMed [citation]

PMID:: 20602485
PMCID:: PMC2910813

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000273607.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

Ã¢â‚¬â€¹The c.2970_2972delAAT pathogenic mutation (also known as p.M992del and delM992) is located in coding exon 22 of the NF1 gene. This alteration results from an in-frame AAT deletion between nucleotide positions 2970 and 2972. This results in the deletion of a highly conserved methionine residue at codon992. This alteration was first identified in two unrelated probands with paternally inherited neurofibromatosis type 1 (NF1) (Shen MH et al. Hum Mol Genet. 1993; 2(11):1861-4). Later studies suggest this mutation is associated with an attenuated form of NF1 similar to Legious syndrome; individuals with this mutation are not likely to develop neurofibromas (Upadhyaya M et al. Am J Hum Genet. 2007; 80(1):140-51). Based on the supporting evidence, c.2970_2972delAAT is interpreted as a disease-causing mutation.

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

Last Updated: Nov 3, 2024

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