NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 21, 2020
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:: RCV001389441.4

Allele description [Variation Report for NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs)]

NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs)

Gene:

SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs)

HGVS:

NC_000017.11:g.31940448_31940449del
NG_009237.1:g.8424_8425del
NM_001321207.2:c.348_349del
NM_015355.4:c.348_349delMANE SELECT
NP_001308136.1:p.Tyr117fs
NP_056170.2:p.Tyr117fs
NC_000017.10:g.30267467_30267468del
NC_000017.10:g.30267467_30267468delTT

Protein change:

Y117fs

Links:

dbSNP: rs2142117372

NCBI 1000 Genomes Browser:

rs2142117372

Molecular consequence:

NM_001321207.2:c.348_349del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015355.4:c.348_349del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

LOC124432610 [Vespa crabro]
LOC124432610 [Vespa crabro]
Gene ID:124432610

Gene
hsp70l heat shock cognate 70-kd protein, like [Danio rerio]
hsp70l heat shock cognate 70-kd protein, like [Danio rerio]
Gene ID:560210

Gene

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
SCV001590811	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 21, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 30019515, 31736240, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001590811

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 21, 2020)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6.

PubMed [citation]

PMID:: 30019515

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study., Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, et al.

Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17.

PubMed [citation]

PMID:: 31736240

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001590811.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Tyr117Hisfs*16) in the SUZ12 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SUZ12-related conditions. Loss-of-function variants in SUZ12 are known to be pathogenic (PMID: 30019515, 31736240). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine