NM_001042492.3(NF1):c.4332G>A (p.Lys1444=) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 17, 2021
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:: RCV000485227.2

Allele description [Variation Report for NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)]

NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)

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.4332G>A (p.Lys1444=)

HGVS:

NC_000017.11:g.31258502G>A
NG_009018.1:g.168526G>A
NM_000267.3:c.4269G>A
NM_001042492.3:c.4332G>AMANE SELECT
NP_000258.1:p.Lys1423=
NP_001035957.1:p.Lys1444=
NP_001035957.1:p.Lys1444=
LRG_214t1:c.4269G>A
LRG_214t2:c.4332G>A
LRG_214:g.168526G>A
LRG_214p1:p.Lys1423=
LRG_214p2:p.Lys1444=
NC_000017.10:g.29585520G>A
NM_001042492.2:c.4332G>A
NM_001042492.3:c.4332G>A

Links:

dbSNP: rs199474750

NCBI 1000 Genomes Browser:

rs199474750

Molecular consequence:

NM_000267.3:c.4269G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001042492.3:c.4332G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000573246	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Aug 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000573246

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Aug 17, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573246.6

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

Description

Located at the last nucleotide of the exon and predicted to result in abnormal splicing leading to an in-frame deletion of the adjacent exon; Published functional studies demonstrate a damaging effect: cell lines containing this variant were able to form colonies and lost contact inhibition; they also showed the ability to form tumors when introduced to mice (Li 2016); Not observed at significant frequency in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 32978145, 28068329, 27617404, 27862945)

#	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

Last Updated: Nov 18, 2024

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