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NM_001042492.3(NF1):c.2250A>G (p.Thr750=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 14, 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:
RCV000221148.1

Allele description [Variation Report for NM_001042492.3(NF1):c.2250A>G (p.Thr750=)]

NM_001042492.3(NF1):c.2250A>G (p.Thr750=)

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.2250A>G (p.Thr750=)
HGVS:
  • NC_000017.11:g.31226683A>G
  • NG_009018.1:g.136707A>G
  • NM_000267.3:c.2250A>G
  • NM_001042492.3:c.2250A>GMANE SELECT
  • NP_000258.1:p.Thr750=
  • NP_001035957.1:p.Thr750=
  • NP_001035957.1:p.Thr750=
  • LRG_214t1:c.2250A>G
  • LRG_214t2:c.2250A>G
  • LRG_214:g.136707A>G
  • LRG_214p1:p.Thr750=
  • LRG_214p2:p.Thr750=
  • NC_000017.10:g.29553701A>G
  • NM_001042492.2:c.2250A>G
Links:
dbSNP: rs876659061
NCBI 1000 Genomes Browser:
rs876659061
Molecular consequence:
  • NM_000267.3:c.2250A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.2250A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000275060Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Likely benign
(Apr 14, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000275060.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024