U.S. flag

An official website of the United States government

NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001579580.3

Allele description [Variation Report for NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)]

NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)
HGVS:
  • NC_000003.12:g.12584880C>G
  • NG_007467.1:g.84300G>C
  • NM_001354689.3:c.1830G>C
  • NM_001354690.3:c.1770G>C
  • NM_001354691.3:c.1527G>C
  • NM_001354692.3:c.1527G>C
  • NM_001354693.3:c.1671G>C
  • NM_001354694.3:c.1587G>C
  • NM_001354695.3:c.1428G>C
  • NM_002880.4:c.1770G>CMANE SELECT
  • NP_001341618.1:p.Lys610Asn
  • NP_001341619.1:p.Lys590Asn
  • NP_001341620.1:p.Lys509Asn
  • NP_001341621.1:p.Lys509Asn
  • NP_001341622.1:p.Lys557Asn
  • NP_001341623.1:p.Lys529Asn
  • NP_001341624.1:p.Lys476Asn
  • NP_002871.1:p.Lys590Asn
  • NP_002871.1:p.Lys590Asn
  • LRG_413t1:c.1770G>C
  • LRG_413t2:c.1830G>C
  • LRG_413:g.84300G>C
  • LRG_413p1:p.Lys590Asn
  • LRG_413p2:p.Lys610Asn
  • NC_000003.11:g.12626379C>G
  • NM_002880.3:c.1770G>C
  • NR_148940.3:n.2214G>C
  • NR_148941.3:n.2160G>C
  • NR_148942.3:n.2099G>C
Protein change:
K476N
Links:
dbSNP: rs773583951
NCBI 1000 Genomes Browser:
rs773583951
Molecular consequence:
  • NM_001354689.3:c.1830G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.1527G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.1527G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.1671G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.1587G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.1428G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.1770G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.2214G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.2160G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.2099G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001807790Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001957116Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807790.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001957116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024