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NM_002880.4(RAF1):c.834+662G>T AND Dilated cardiomyopathy 1NN

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 12, 2022
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:
RCV002466303.1

Allele description [Variation Report for NM_002880.4(RAF1):c.834+662G>T]

NM_002880.4(RAF1):c.834+662G>T

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.834+662G>T
Other names:
c.492+662G>T; c.591+662G>T; c.651+4G>T; c.735+662G>T; c.834+662G>T
HGVS:
  • NC_000003.12:g.12603474C>A
  • NG_007467.1:g.65706G>T
  • NM_001354689.3:c.894+4G>T
  • NM_001354690.3:c.834+662G>T
  • NM_001354691.3:c.591+662G>T
  • NM_001354692.3:c.591+662G>T
  • NM_001354693.3:c.735+662G>T
  • NM_001354694.3:c.651+4G>T
  • NM_001354695.3:c.492+662G>T
  • NM_002880.4:c.834+662G>TMANE SELECT
  • LRG_413t2:c.894+4G>T
  • LRG_413:g.65706G>T
  • NC_000003.11:g.12644973C>A
Molecular consequence:
  • NM_001354689.3:c.894+4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354690.3:c.834+662G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354691.3:c.591+662G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354692.3:c.591+662G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354693.3:c.735+662G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354694.3:c.651+4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354695.3:c.492+662G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002880.4:c.834+662G>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1NN
Identifiers:
MONDO: MONDO:0014396; MedGen: C4014656; Orphanet: 154; OMIM: 615916

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002760678Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 12, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital, SCV002760678.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedclinical testing PubMed (1)

Description

This heterozygous c.894+4G>T variant has been identified in a 1-year-old boy with dilated cardiomyopathy and refractory arrhythmia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2022