NM_001042492.3(NF1):c.6705-17G>A AND Neurofibromatosis, type 1

Germline classification:: Conflicting classifications of pathogenicity (4 submissions)
Last evaluated:: Jun 30, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000660102.13

Allele description [Variation Report for NM_001042492.3(NF1):c.6705-17G>A]

NM_001042492.3(NF1):c.6705-17G>A

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.6705-17G>A

HGVS:

NC_000017.11:g.31338008G>A
NG_009018.1:g.248032G>A
NM_000267.4:c.6642-17G>A
NM_001042492.3:c.6705-17G>AMANE SELECT
LRG_214t1:c.6642-17G>A
LRG_214:g.248032G>A
NC_000017.10:g.29665026G>A
NC_000017.10:g.29665026G>A
NM_000267.3:c.6642-17G>A

Links:

dbSNP: rs1064795966

Molecular consequence:

NM_000267.4:c.6642-17G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001042492.3:c.6705-17G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: VON RECKLINGHAUSEN DISEASE; NEUROFIBROMATOSIS, TYPE I, SOMATIC; Peripheral type neurofibromatosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000782083	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001167393	UAB Medical Genomics Laboratory, UAB Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 20, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 32126153
SCV001250657	Institute of Human Genetics, Medical University Innsbruck	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 20, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003471669	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 30, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32126153, 28492532

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Wimmer K, Schamschula E, Wernstedt A, Traunfellner P, Amberger A, Zschocke J, Kroisel P, Chen Y, Callens T, Messiaen L.

Hum Mutat. 2020 Jun;41(6):1145-1156. doi: 10.1002/humu.24005. Epub 2020 Mar 11.

PubMed [citation]

PMID:: 32126153
PMCID:: PMC7317903

See all PubMed Citations (3)

Details of each submission

From Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000782083.1

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

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

From UAB Medical Genomics Laboratory, UAB Medicine, SCV001167393.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

From Institute of Human Genetics, Medical University Innsbruck, SCV001250657.1

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

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003471669.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

ClinVar contains an entry for this variant (Variation ID: 422739). This sequence change falls in intron 43 of the NF1 gene. It does not directly change the encoded amino acid sequence of the NF1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of neurofibromatosis, type 1 (PMID: 32126153). Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (PMID: 32126153). 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.

#	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: Apr 12, 2026

ClinVar

Relating variation to medicine