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NM_001042492.3(NF1):c.7125T>C (p.Asp2375=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 25, 2019
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:
RCV002400194.9

Allele description [Variation Report for NM_001042492.3(NF1):c.7125T>C (p.Asp2375=)]

NM_001042492.3(NF1):c.7125T>C (p.Asp2375=)

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.7125T>C (p.Asp2375=)
HGVS:
  • NC_000017.11:g.31343071T>C
  • NG_009018.1:g.253095T>C
  • NM_000267.3:c.7062T>C
  • NM_001042492.3:c.7125T>CMANE SELECT
  • NP_000258.1:p.Asp2354=
  • NP_001035957.1:p.Asp2375=
  • LRG_214t1:c.7062T>C
  • LRG_214:g.253095T>C
  • LRG_214p1:p.Asp2354=
  • NC_000017.10:g.29670089T>C
  • NC_000017.10:g.29670089T>C
  • NM_001042492.3:c.7125T>C
Links:
dbSNP: rs1597851343
NCBI 1000 Genomes Browser:
rs1597851343
Molecular consequence:
  • NM_000267.3:c.7062T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.7125T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001188282Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 25, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV001188282.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024