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NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Apr 8, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV000166293.8

Allele description [Variation Report for NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)]

NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)

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.2188A>T (p.Asn730Tyr)
HGVS:
  • NC_000017.11:g.31226621A>T
  • NG_009018.1:g.136645A>T
  • NM_000267.3:c.2188A>T
  • NM_001042492.3:c.2188A>TMANE SELECT
  • NP_000258.1:p.Asn730Tyr
  • NP_001035957.1:p.Asn730Tyr
  • NP_001035957.1:p.Asn730Tyr
  • LRG_214t1:c.2188A>T
  • LRG_214t2:c.2188A>T
  • LRG_214:g.136645A>T
  • LRG_214p1:p.Asn730Tyr
  • LRG_214p2:p.Asn730Tyr
  • NC_000017.10:g.29553639A>T
  • NM_001042492.2:c.2188A>T
  • p.N730Y
Protein change:
N730Y
Links:
dbSNP: rs758893131
NCBI 1000 Genomes Browser:
rs758893131
Molecular consequence:
  • NM_000267.3:c.2188A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.2188A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217076Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely benign
(Dec 11, 2019) 		germlineclinical testing

Citation Link,

SCV002527451Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Apr 8, 2021) 		germlinecuration

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing, curation

Details of each submission

From Ambry Genetics, SCV000217076.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

in silico models in agreement (benign);Insufficient or Conflicting Evidence;Other strong data supporting benign classification

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

From Sema4, Sema4, SCV002527451.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025