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NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 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:
RCV002266726.1

Allele description [Variation Report for NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)]

NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg)

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.1922C>G (p.Thr641Arg)
HGVS:
  • NC_000003.12:g.12584539G>C
  • NG_007467.1:g.84641C>G
  • NM_001354689.3:c.1982C>G
  • NM_001354690.3:c.1922C>G
  • NM_001354691.3:c.1679C>G
  • NM_001354692.3:c.1679C>G
  • NM_001354693.3:c.1823C>G
  • NM_001354694.3:c.1739C>G
  • NM_001354695.3:c.1580C>G
  • NM_002880.4:c.1922C>GMANE SELECT
  • NP_001341618.1:p.Thr661Arg
  • NP_001341619.1:p.Thr641Arg
  • NP_001341620.1:p.Thr560Arg
  • NP_001341621.1:p.Thr560Arg
  • NP_001341622.1:p.Thr608Arg
  • NP_001341623.1:p.Thr580Arg
  • NP_001341624.1:p.Thr527Arg
  • NP_002871.1:p.Thr641Arg
  • LRG_413t1:c.1922C>G
  • LRG_413t2:c.1982C>G
  • LRG_413:g.84641C>G
  • LRG_413p2:p.Thr661Arg
  • NC_000003.11:g.12626038G>C
  • NM_002880.3:c.1922C>G
  • NR_148940.3:n.2366C>G
  • NR_148941.3:n.2312C>G
  • NR_148942.3:n.2251C>G
Protein change:
T527R
Links:
dbSNP: rs587777587
NCBI 1000 Genomes Browser:
rs587777587
Molecular consequence:
  • NM_001354689.3:c.1982C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.3:c.1922C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.3:c.1679C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.3:c.1679C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.3:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.3:c.1739C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.3:c.1580C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.4:c.1922C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.3:n.2366C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.3:n.2312C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.3:n.2251C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
LEOPARD syndrome 2 (LPRD2)
Identifiers:
MONDO: MONDO:0012691; MedGen: C1969056; Orphanet: 500; OMIM: 611554
Name:
Noonan syndrome 5 (NS5)
Synonyms:
RAF1 gene related Noonan syndrome
Identifiers:
MONDO: MONDO:0012690; MedGen: C1969057; Orphanet: 648; OMIM: 611553

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002548811New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Jul 30, 2021) 		inheritedclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002548811.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023