NM_001281775.3(ZMYND8):c.1964dup (p.Pro656fs) AND ZMYND8-associated neurodevelopmental disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV003885426.1

Allele description [Variation Report for NM_001281775.3(ZMYND8):c.1964dup (p.Pro656fs)]

NM_001281775.3(ZMYND8):c.1964dup (p.Pro656fs)

Gene:

ZMYND8:zinc finger MYND-type containing 8 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

20q13.12

Genomic location:

Preferred name:

NM_001281775.3(ZMYND8):c.1964dup (p.Pro656fs)

HGVS:

NC_000020.11:g.47246335dup
NM_001281771.3:c.1889dup
NM_001281772.3:c.1904dup
NM_001281773.3:c.1904dup
NM_001281774.3:c.1904dup
NM_001281775.3:c.1964dupMANE SELECT
NM_001281776.3:c.1964dup
NM_001281777.3:c.1889dup
NM_001281778.3:c.1889dup
NM_001281779.3:c.1160dup
NM_001281780.3:c.1160dup
NM_001281781.3:c.1748dup
NM_001281782.3:c.1889dup
NM_001281783.3:c.1964dup
NM_001281784.3:c.1748dup
NM_001363714.1:c.1985dup
NM_001363741.2:c.1904dup
NM_012408.6:c.1964dup
NM_183047.4:c.1964dup
NM_183048.4:c.1889dup
NP_001268700.1:p.Pro631fs
NP_001268701.1:p.Pro636fs
NP_001268702.1:p.Pro636fs
NP_001268703.1:p.Pro636fs
NP_001268704.1:p.Pro656fs
NP_001268705.1:p.Pro656fs
NP_001268706.1:p.Pro631fs
NP_001268707.1:p.Pro631fs
NP_001268708.1:p.Pro388fs
NP_001268709.1:p.Pro388fs
NP_001268710.1:p.Pro584fs
NP_001268711.1:p.Pro631fs
NP_001268712.1:p.Pro656fs
NP_001268713.1:p.Pro584fs
NP_001350643.1:p.Pro663fs
NP_001350670.1:p.Pro636fs
NP_036540.3:p.Pro656fs
NP_898868.1:p.Pro656fs
NP_898869.1:p.Pro631fs
NC_000020.10:g.45875079dup
NM_001363714.1:c.1985dupA

Protein change:

P388fs

Molecular consequence:

NM_001281771.3:c.1889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281772.3:c.1904dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281773.3:c.1904dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281774.3:c.1904dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281775.3:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281776.3:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281777.3:c.1889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281778.3:c.1889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281779.3:c.1160dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281780.3:c.1160dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281781.3:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281782.3:c.1889dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281783.3:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001281784.3:c.1748dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363714.1:c.1985dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363741.2:c.1904dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_012408.6:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_183047.4:c.1964dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_183048.4:c.1889dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: ZMYND8-associated neurodevelopmental disorder
Identifiers:

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Taxonomy Links for GEO Profiles (Select 44234419) (1)
Taxonomy
txid575607[Organism] (2)
BioSample
ZMYND8[gene] (89)
ClinVar
if10a04.x5 Melton Normalized Human Islet 4 N4-HIS 1 Homo sapiens cDNA clone IMAG...
if10a04.x5 Melton Normalized Human Islet 4 N4-HIS 1 Homo sapiens cDNA clone IMAGE:5675814 3', mRNA sequence
gi|44836102|gnl|dbEST|21760054|gb|C 77.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004698106	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 28, 2024)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 35916866, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004698106

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 28, 2024)

unknown

clinical testing

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	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, et al.

Genet Med. 2022 Sep;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001. Epub 2022 Aug 1.

PubMed [citation]

PMID:: 35916866

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV004698106.1

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

Description

Criteria applied: PVS1,BS2

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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine