NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu) AND Neurofibromatosis, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 21, 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:: RCV001059067.4

Allele description [Variation Report for NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)]

NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)

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.8084C>T (p.Pro2695Leu)

HGVS:

NC_000017.11:g.31358593C>T
NG_009018.1:g.268617C>T
NM_000267.3:c.8021C>T
NM_001042492.3:c.8084C>TMANE SELECT
NP_000258.1:p.Pro2674Leu
NP_001035957.1:p.Pro2695Leu
LRG_214t1:c.8021C>T
LRG_214:g.268617C>T
LRG_214p1:p.Pro2674Leu
NC_000017.10:g.29685611C>T

Protein change:

P2674L

Links:

dbSNP: rs2070328290

NCBI 1000 Genomes Browser:

rs2070328290

Molecular consequence:

NM_000267.3:c.8021C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.8084C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

Recent activity

Clear Turn Off Turn On

pyridoxal phosphate-dependent aminotransferase [Echinicola pacifica]
pyridoxal phosphate-dependent aminotransferase [Echinicola pacifica]
gi|648544329|ref|WP_026236080.1|

Protein
DNA topoisomerase IV subunit B, partial [Salmonella enterica subsp. enterica ser...
DNA topoisomerase IV subunit B, partial [Salmonella enterica subsp. enterica serovar Enteritidis]
gi|1393955193|gb|AWO65122.1|

Protein
LeuS, partial [Salmonella enterica subsp. enterica]
LeuS, partial [Salmonella enterica subsp. enterica]
gi|189008241|gb|ACD68380.1|

Protein
Burkholderia cenocepacia strain VC2387 VC2387_contig-3000009, whole genome shotg...
Burkholderia cenocepacia strain VC2387 VC2387_contig-3000009, whole genome shotgun sequence
gi|1143719290|gb|MUPR01000084.1||gn :MUPR01|VC2387_contig-3000009

Nucleotide
HS6ST3 [Coturnix japonica]
HS6ST3 [Coturnix japonica]
Gene ID:107308011

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001223672	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 21, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001223672

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 21, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001223672.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has not been reported in the literature in individuals affected with NF1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2674 of the NF1 protein (p.Pro2674Leu). ClinVar contains an entry for this variant (Variation ID: 854100). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine