U.S. flag

An official website of the United States government

NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 16, 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:
RCV003718379.1

Allele description [Variation Report for NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)]

NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)

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.671G>A (p.Arg224Gln)
HGVS:
  • NC_000011.10:g.686991C>T
  • NG_034156.2:g.25093G>A
  • NM_001293634.1:c.664+920G>A
  • NM_001367390.1:c.-56G>A
  • NM_021008.4:c.671G>AMANE SELECT
  • NP_066288.2:p.Arg224Gln
  • NC_000011.9:g.686991C>T
  • NG_034156.1:g.13764G>A
  • NM_021008.3:c.671G>A
Protein change:
R224Q; ARG224GLN
Links:
OMIM: 602635.0018; dbSNP: rs1415420832
NCBI 1000 Genomes Browser:
rs1415420832
Molecular consequence:
  • NM_001367390.1:c.-56G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001293634.1:c.664+920G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021008.4:c.671G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV004511913Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(May 16, 2023)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, et al.

Transl Psychiatry. 2020 Feb 24;10(1):77. doi: 10.1038/s41398-020-0760-7.

PubMed [citation]
PMID:
32094338
PMCID:
PMC7039996

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, et al.

Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29.

PubMed [citation]
PMID:
30923367
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV004511913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

ClinVar contains an entry for this variant (Variation ID: 915957). This missense change has been observed in individual(s) with autosomal recessive DEAF1-related conditions (PMID: 30923367). It has also been observed to segregate with disease in related individuals. This variant has been reported in individual(s) with autosomal dominant DEAF1-related conditions (PMID: 32094338); however, the role of the variant in this condition is currently unclear. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 224 of the DEAF1 protein (p.Arg224Gln). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DEAF1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on DEAF1 function (PMID: 30923367).

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

Last Updated: Jul 15, 2024