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NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 12, 2014
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:
RCV000622720.2

Allele description [Variation Report for NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)]

NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)

Gene:
DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)
HGVS:
  • NC_000011.10:g.686986G>A
  • NG_034156.2:g.25098C>T
  • NM_001293634.1:c.664+925C>T
  • NM_001367390.1:c.-51C>T
  • NM_021008.4:c.676C>TMANE SELECT
  • NP_066288.2:p.Arg226Trp
  • NP_066288.2:p.Arg226Trp
  • NC_000011.9:g.686986G>A
  • NM_021008.2:c.676C>T
  • NM_021008.3:c.676C>T
  • O75398:p.Arg226Trp
Protein change:
R226W; ARG226TRP
Links:
UniProtKB: O75398#VAR_071372; OMIM: 602635.0005; dbSNP: rs587777623
NCBI 1000 Genomes Browser:
rs587777623
Molecular consequence:
  • NM_001367390.1:c.-51C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293634.1:c.664+925C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021008.4:c.676C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740785Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Likely pathogenic
(Dec 12, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Unknowngermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740785.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Unknown1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024