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NM_021008.4(DEAF1):c.926del (p.Leu309fs) AND DEAF1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 23, 2023
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:
RCV004529102.1

Allele description [Variation Report for NM_021008.4(DEAF1):c.926del (p.Leu309fs)]

NM_021008.4(DEAF1):c.926del (p.Leu309fs)

Gene:
DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_021008.4(DEAF1):c.926del (p.Leu309fs)
HGVS:
  • NC_000011.10:g.681034del
  • NG_034156.2:g.31050del
  • NM_001293634.1:c.731-1218del
  • NM_001367390.1:c.200del
  • NM_021008.4:c.926delMANE SELECT
  • NP_001354319.1:p.Leu67fs
  • NP_066288.2:p.Leu309fs
  • NC_000011.9:g.681034del
  • NM_021008.3:c.926delT
Protein change:
L309fs
Links:
dbSNP: rs1417226023
NCBI 1000 Genomes Browser:
rs1417226023
Molecular consequence:
  • NM_001367390.1:c.200del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_021008.4:c.926del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293634.1:c.731-1218del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
DEAF1-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004112774PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 23, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 PreventionGenetics, part of Exact Sciences, SCV004112774.1

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

Description

The DEAF1 c.926delT variant is predicted to result in a frameshift and premature protein termination (p.Leu309Argfs*6). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-681033-CA-C). Frameshift variants in DEAF1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 16, 2025