NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp) AND Primrose syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 1, 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:: RCV000845023.2

Allele description [Variation Report for NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)]

NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)

Gene:

ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.31

Genomic location:

Preferred name:

NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)

HGVS:

NC_000003.12:g.114339426C>T
NG_052992.1:g.812855G>A
NM_001164342.2:c.1805G>A
NM_001164343.2:c.1586G>A
NM_001164344.4:c.1586G>A
NM_001164345.4:c.1586G>A
NM_001164346.2:c.1586G>A
NM_001164347.2:c.1586G>A
NM_001348800.3:c.1805G>AMANE SELECT
NM_001348801.3:c.1586G>A
NM_001348802.3:c.1586G>A
NM_001348803.3:c.1805G>A
NM_001348804.3:c.1586G>A
NM_001348805.3:c.1586G>A
NM_001393393.1:c.1805G>A
NM_001393394.1:c.1805G>A
NM_001393395.1:c.1586G>A
NM_001393396.1:c.1586G>A
NM_015642.7:c.1586G>A
NP_001157814.1:p.Gly602Asp
NP_001157815.1:p.Gly529Asp
NP_001157816.1:p.Gly529Asp
NP_001157817.1:p.Gly529Asp
NP_001157818.1:p.Gly529Asp
NP_001157819.1:p.Gly529Asp
NP_001335729.1:p.Gly602Asp
NP_001335730.1:p.Gly529Asp
NP_001335731.1:p.Gly529Asp
NP_001335732.1:p.Gly602Asp
NP_001335733.1:p.Gly529Asp
NP_001335734.1:p.Gly529Asp
NP_001380322.1:p.Gly602Asp
NP_001380323.1:p.Gly602Asp
NP_001380324.1:p.Gly529Asp
NP_001380325.1:p.Gly529Asp
NP_056457.3:p.Gly529Asp
NC_000003.11:g.114058273C>T
NR_121662.3:n.470G>A

Protein change:

G529D

Links:

dbSNP: rs483353068

NCBI 1000 Genomes Browser:

rs483353068

Molecular consequence:

NM_001164342.2:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164343.2:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164344.4:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164345.4:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164346.2:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001164347.2:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348800.3:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348801.3:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348802.3:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348803.3:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348804.3:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001348805.3:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393393.1:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393394.1:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393395.1:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001393396.1:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015642.7:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_121662.3:n.470G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Primrose syndrome
Synonyms:: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes; Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Identifiers:: MONDO: MONDO:0009798; MedGen: C0796121; OMIM: 259050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000986856	GenomeConnect, ClinGen	no classification provided	not provided	de novo	phenotyping only
SCV004171007	DECIPHERD-UDD, Universidad del Desarrollo	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 1, 2023)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 38177409

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000986856

GenomeConnect, ClinGen

no classification provided

not provided

de novo

phenotyping only

SCV004171007

DECIPHERD-UDD, Universidad del Desarrollo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 1, 2023)

de novo

research

PubMed (2)
[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	de novo	yes	not provided	not provided	not provided	not provided	not provided	research, phenotyping only

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

Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.

Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, et al.

Eur J Hum Genet. 2024 Jan 4. doi: 10.1038/s41431-023-01523-5. [Epub ahead of print]

PubMed [citation]

PMID:: 38177409

Details of each submission

From GenomeConnect, ClinGen, SCV000986856.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpretted as Likely pathogenic and reported on 07/11/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

From DECIPHERD-UDD, Universidad del Desarrollo, SCV004171007.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	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: Mar 10, 2024

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