U.S. flag

An official website of the United States government

NM_001042492.3(NF1):c.615G>A (p.Lys205=) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 7, 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:
RCV002356813.9

Allele description [Variation Report for NM_001042492.3(NF1):c.615G>A (p.Lys205=)]

NM_001042492.3(NF1):c.615G>A (p.Lys205=)

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.615G>A (p.Lys205=)
HGVS:
  • NC_000017.11:g.31181450G>A
  • NG_009018.1:g.91474G>A
  • NM_000267.3:c.615G>A
  • NM_001042492.3:c.615G>AMANE SELECT
  • NM_001128147.3:c.615G>A
  • NP_000258.1:p.Lys205=
  • NP_001035957.1:p.Lys205=
  • NP_001035957.1:p.Lys205=
  • NP_001121619.1:p.Lys205=
  • LRG_214t1:c.615G>A
  • LRG_214t2:c.615G>A
  • LRG_214:g.91474G>A
  • LRG_214p1:p.Lys205=
  • LRG_214p2:p.Lys205=
  • NC_000017.10:g.29508468G>A
  • NM_001042492.2:c.615G>A
Links:
dbSNP: rs1135402794
NCBI 1000 Genomes Browser:
rs1135402794
Molecular consequence:
  • NM_000267.3:c.615G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.615G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001128147.3:c.615G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002660383Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Oct 7, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002660383.2

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

Description

The c.615G>A variant (also known as p.K205K) is located in coding exon 6 of the NF1 gene. This variant results from a G to A substitution at nucleotide position 615. This nucleotide substitution does not change the lysine at codon 205. This alteration was identified in an individual from a neurofibromatosis type 1 cohort (Bonatti F et al. Int J Mol Sci, 2017 Sep;18:). This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024