U.S. flag

An official website of the United States government

NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 2017
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:
RCV000622273.2

Allele description [Variation Report for NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser)]

NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser)

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.890T>C (p.Phe297Ser)
HGVS:
  • NC_000011.10:g.681070A>G
  • NG_034156.2:g.31014T>C
  • NM_001293634.1:c.731-1254T>C
  • NM_001367390.1:c.164T>C
  • NM_021008.4:c.890T>CMANE SELECT
  • NP_001354319.1:p.Phe55Ser
  • NP_066288.2:p.Phe297Ser
  • NC_000011.9:g.681070A>G
  • NM_021008.2:c.890T>C
Protein change:
F297S
Links:
dbSNP: rs1390761338
NCBI 1000 Genomes Browser:
rs1390761338
Molecular consequence:
  • NM_001293634.1:c.731-1254T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001367390.1:c.164T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021008.4:c.890T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742832Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Uncertain significance
(Aug 3, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasian/Moldovan/Russiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000742832.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian/Moldovan/Russian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024