NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser) AND Neurofibromatosis, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 23, 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:: RCV003599221.2

Allele description [Variation Report for NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)]

NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)

HGVS:

NC_000017.11:g.31338761_31338762delinsAG
NG_009018.1:g.248785_248786delinsAG
NM_000267.3:c.6814_6815delinsAG
NM_001042492.3:c.6877_6878delinsAGMANE SELECT
NP_000258.1:p.Ala2272Ser
NP_001035957.1:p.Ala2293Ser
NP_001035957.1:p.Ala2293Ser
LRG_214t1:c.6814_6815delinsAG
LRG_214t2:c.6877_6878delGCinsAG
LRG_214:g.248785_248786delinsAG
LRG_214p1:p.Ala2272Ser
LRG_214p2:p.Ala2293Ser
NC_000017.10:g.29665779_29665780delinsAG
NM_001042492.2:c.6877_6878delGCinsAG

Protein change:

A2272S

Molecular consequence:

NM_000267.3:c.6814_6815delinsAG - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.6877_6878delinsAG - 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

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conserved hypothetical protein [Sulfolobus islandicus M.16.27]
conserved hypothetical protein [Sulfolobus islandicus M.16.27]
gi|228020873|gnl|jgi|M1627_2428|gb| 280.1|

Protein
SIH_RS11955 [Sulfolobus islandicus HVE10/4]
SIH_RS11955 [Sulfolobus islandicus HVE10/4]
Gene ID:12416417

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004485079	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 23, 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

SCV004485079

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 23, 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, SCV004485079.1

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

Description

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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. This variant has not been reported in the literature in individuals affected with NF1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2272 of the NF1 protein (p.Ala2272Ser).

#	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

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