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NM_001042492.3(NF1):c.1005T>C (p.Asn335=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 10, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000163833.3

Allele description [Variation Report for NM_001042492.3(NF1):c.1005T>C (p.Asn335=)]

NM_001042492.3(NF1):c.1005T>C (p.Asn335=)

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.1005T>C (p.Asn335=)
HGVS:
  • NC_000017.11:g.31200538T>C
  • NG_009018.1:g.110562T>C
  • NM_000267.3:c.1005T>C
  • NM_001042492.3:c.1005T>CMANE SELECT
  • NM_001128147.3:c.1005T>C
  • NP_000258.1:p.Asn335=
  • NP_001035957.1:p.Asn335=
  • NP_001035957.1:p.Asn335=
  • NP_001121619.1:p.Asn335=
  • LRG_214t1:c.1005T>C
  • LRG_214t2:c.1005T>C
  • LRG_214:g.110562T>C
  • LRG_214p1:p.Asn335=
  • LRG_214p2:p.Asn335=
  • NC_000017.10:g.29527556T>C
  • NM_001042492.2:c.1005T>C
  • NM_001042492.3:c.1005T>C
  • p.N335N
Links:
dbSNP: rs777369021
NCBI 1000 Genomes Browser:
rs777369021
Molecular consequence:
  • NM_000267.3:c.1005T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.1005T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128147.3:c.1005T>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000214419Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (7/2020))		Likely benign
(Sep 2, 2020) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV002527369Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Feb 10, 2021) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B.

BMC Med Genet. 2007 Feb 12;8:4.

PubMed [citation]
PMID:
17295913
PMCID:
PMC1802069

Details of each submission

From Ambry Genetics, SCV000214419.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

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

From Sema4, Sema4, SCV002527369.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024