NM_138927.4(SON):c.117del (p.Ile41fs) AND ZTTK syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 2022
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:: RCV002306236.1

Allele description [Variation Report for NM_138927.4(SON):c.117del (p.Ile41fs)]

NM_138927.4(SON):c.117del (p.Ile41fs)

Gene:

SON:SON DNA and RNA binding protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_138927.4(SON):c.117del (p.Ile41fs)

Other names:

p.Ile41Leufs*21

HGVS:

NC_000021.9:g.33546252del
NG_029160.1:g.1641del
NG_029160.2:g.1641del
NG_052981.1:g.8215del
NG_052981.2:g.8216del
NM_001291411.2:c.117del
NM_001291412.3:c.117del
NM_001412132.1:c.117delA
NM_001412133.1:c.117delA
NM_032195.3:c.117del
NM_058183.2:c.117delA
NM_138926.1:c.117delA
NM_138927.4:c.117delMANE SELECT
NP_001278340.2:p.Ile41fs
NP_001278341.1:p.Ile41fs
NP_001399061.1:p.Ile41Leufs
NP_001399062.1:p.Ile41Leufs
NP_115571.3:p.Ile41fs
NP_478063.2:p.Ile41Leufs
NP_620304.1:p.Ile41Leufs
NP_620305.3:p.Ile41fs
NC_000021.8:g.34918558del
NM_138927.2:c.117del
NR_103797.2:n.172del

Protein change:

I41fs

Molecular consequence:

NM_001291411.2:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001291412.3:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001412132.1:c.117delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001412133.1:c.117delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032195.3:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_058183.2:c.117delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138926.1:c.117delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138927.4:c.117del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_103797.2:n.172del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: ZTTK syndrome (ZTTKS)
Synonyms:: ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME; ZHU-TOKITA-TAKENOUCHI-KIM SYNDROME
Identifiers:: MONDO: MONDO:0014936; MedGen: C4310696; OMIM: 617140

Recent activity

Clear Turn Off Turn On

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
SCV002600029	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 13, 2022)	de novo	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

SCV002600029

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 13, 2022)

de novo

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	de novo	yes	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 Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV002600029.1

#	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	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

ClinVar

Relating variation to medicine