NM_022095.4(ZNF335):c.2342del (p.Gln781fs) AND Microcephalic primordial dwarfism due to ZNF335 deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 6, 2024
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:: RCV004544232.1

Allele description [Variation Report for NM_022095.4(ZNF335):c.2342del (p.Gln781fs)]

NM_022095.4(ZNF335):c.2342del (p.Gln781fs)

Gene:

ZNF335:zinc finger protein 335 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_022095.4(ZNF335):c.2342del (p.Gln781fs)

HGVS:

NC_000020.11:g.45957840del
NG_029772.1:g.19355del
NM_022095.4:c.2342delMANE SELECT
NP_071378.1:p.Gln781fs
NC_000020.10:g.44586479del

Protein change:

Q781fs

Molecular consequence:

NM_022095.4:c.2342del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Microcephalic primordial dwarfism due to ZNF335 deficiency
Synonyms:: Primary autosomal recessive microcephaly 10
Identifiers:: MONDO: MONDO:0014043; MedGen: C3554499; Orphanet: 329228; OMIM: 615095

Recent activity

Clear Turn Off Turn On

Taxonomy Links for GEO Profiles (Select 32360816) (1)
Taxonomy

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005042992	Genomic Research Center, Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 6, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005042992

Genomic Research Center, Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 6, 2024)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV005042992.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

ClinVar

Relating variation to medicine