NM_001354689.3(RAF1):c.-267G>A AND not specified

Clinical significance:Likely benign (Last evaluated: Nov 17, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000154580.1

Allele description [Variation Report for NM_001354689.3(RAF1):c.-267G>A]

NM_001354689.3(RAF1):c.-267G>A

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_001354689.3(RAF1):c.-267G>A
HGVS:
  • NC_000003.12:g.12664053C>T
  • NG_007467.1:g.5127G>A
  • NM_001354689.3:c.-267G>AMANE SELECT
  • NM_001354691.2:c.-490G>A
  • NM_001354692.2:c.-397G>A
  • NM_001354693.2:c.-267G>A
  • NM_001354694.2:c.-397G>A
  • NM_001354695.2:c.-397G>A
  • NM_002880.3:c.-267G>A
  • LRG_413t1:c.-267G>A
  • LRG_413t2:c.-267G>A
  • LRG_413:g.5127G>A
  • NC_000003.11:g.12705552C>T
  • NM_002880.3(RAF1):c.-267G>A
  • NR_148940.2:n.65G>A
  • NR_148941.2:n.65G>A
  • NR_148942.2:n.65G>A
Links:
dbSNP: rs116247741
NCBI 1000 Genomes Browser:
rs116247741
Molecular consequence:
  • NM_001354689.3:c.-267G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354691.2:c.-490G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354692.2:c.-397G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354693.2:c.-267G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354694.2:c.-397G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001354695.2:c.-397G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002880.3:c.-267G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_148940.2:n.65G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.2:n.65G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.2:n.65G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000204253Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Nov 17, 2011)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided65not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000204253.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

This variant is located in the 5'UTR and variants in regulatory regions could ha ve an effect on transcriptional or translational efficiency. However, variants o f this type have not been reported in Noonan spectrum disorders to date. In addi tion, this variant has now been identified in 2/58 (3.4%) Black probands tested by our laboratory, including one proband with a pathogenic PTPN11 variant. This variant may be common in the Black population and therefore unlikely to be patho genic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided6not provided5not provided

Last Updated: Oct 2, 2021

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