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NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 12, 2022
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:
RCV003169088.2

Allele description [Variation Report for NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)]

NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)

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.2521A>C (p.Thr841Pro)
HGVS:
  • NC_000017.11:g.31229136A>C
  • NG_009018.1:g.139160A>C
  • NM_000267.3:c.2521A>C
  • NM_001042492.3:c.2521A>CMANE SELECT
  • NP_000258.1:p.Thr841Pro
  • NP_001035957.1:p.Thr841Pro
  • LRG_214t1:c.2521A>C
  • LRG_214t2:c.2521A>C
  • LRG_214:g.139160A>C
  • LRG_214p1:p.Thr841Pro
  • NC_000017.10:g.29556154A>C
  • NC_000017.10:g.29556154A>C
  • NM_001042492.2:c.2521A>C
Protein change:
T841P
Links:
dbSNP: rs2067066952
NCBI 1000 Genomes Browser:
rs2067066952
Molecular consequence:
  • NM_000267.3:c.2521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.2521A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV003861603Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Dec 12, 2022) 		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, SCV003861603.2

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

Description

The p.T841P variant (also known as c.2521A>C), located in coding exon 21 of the NF1 gene, results from an A to C substitution at nucleotide position 2521. The threonine at codon 841 is replaced by proline, an amino acid with highly similar properties. This alteration has been reported as a de novo variant in two pediatric patients affected with neurofibromatosis type 1 (NF1) (Yao R et al. Genes (Basel), 2019 Oct;10:; N Abdel-Aziz N et al. Mol Genet Genomic Med, 2021 Dec;9:e1631). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025