NM_001370100.5(ZMYND11):c.595C>T (p.Pro199Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 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:: RCV004489132.1

Allele description [Variation Report for NM_001370100.5(ZMYND11):c.595C>T (p.Pro199Ser)]

NM_001370100.5(ZMYND11):c.595C>T (p.Pro199Ser)

Gene:

ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p15.3

Genomic location:

Preferred name:

NM_001370100.5(ZMYND11):c.595C>T (p.Pro199Ser)

HGVS:

NC_000010.11:g.237663C>T
NG_029960.1:g.108199C>T
NM_001161482.1:c.595C>T
NM_001202464.3:c.433C>T
NM_001202465.3:c.354+748C>T
NM_001202466.3:c.433C>T
NM_001202467.1:c.433C>T
NM_001202468.1:c.595C>T
NM_001330057.3:c.544C>T
NM_001370097.3:c.595C>T
NM_001370098.2:c.595C>T
NM_001370099.2:c.595C>T
NM_001370100.5:c.595C>TMANE SELECT
NM_001370101.2:c.595C>T
NM_001370102.2:c.595C>T
NM_001370103.2:c.433C>T
NM_001370104.2:c.433C>T
NM_001370105.2:c.433C>T
NM_001370106.2:c.433C>T
NM_001370107.2:c.433C>T
NM_001370108.2:c.433C>T
NM_001370109.2:c.433C>T
NM_001370110.2:c.354+748C>T
NM_001370111.2:c.433C>T
NM_001370112.2:c.544C>T
NM_001370113.2:c.516+748C>T
NM_001370114.2:c.516+748C>T
NM_001370115.2:c.595C>T
NM_001370116.2:c.529C>T
NM_001370117.2:c.595C>T
NM_001370118.2:c.475C>T
NM_001370119.2:c.595C>T
NM_001370120.2:c.367C>T
NM_001370121.2:c.313C>T
NM_001370122.2:c.433C>T
NM_001370123.2:c.382C>T
NM_001370124.3:c.124C>T
NM_006624.7:c.595C>T
NM_212479.4:c.595C>T
NP_001154954.1:p.Pro199Ser
NP_001189393.1:p.Pro145Ser
NP_001189395.1:p.Pro145Ser
NP_001189396.1:p.Pro145Ser
NP_001189397.1:p.Pro199Ser
NP_001316986.1:p.Pro182Ser
NP_001357026.1:p.Pro199Ser
NP_001357027.1:p.Pro199Ser
NP_001357028.1:p.Pro199Ser
NP_001357029.1:p.Pro199Ser
NP_001357030.1:p.Pro199Ser
NP_001357031.1:p.Pro199Ser
NP_001357032.1:p.Pro145Ser
NP_001357033.1:p.Pro145Ser
NP_001357034.1:p.Pro145Ser
NP_001357035.1:p.Pro145Ser
NP_001357036.1:p.Pro145Ser
NP_001357037.1:p.Pro145Ser
NP_001357038.1:p.Pro145Ser
NP_001357040.1:p.Pro145Ser
NP_001357041.1:p.Pro182Ser
NP_001357044.1:p.Pro199Ser
NP_001357045.1:p.Pro177Ser
NP_001357046.1:p.Pro199Ser
NP_001357047.1:p.Pro159Ser
NP_001357048.1:p.Pro199Ser
NP_001357049.1:p.Pro123Ser
NP_001357050.1:p.Pro105Ser
NP_001357051.1:p.Pro145Ser
NP_001357052.1:p.Pro128Ser
NP_001357053.1:p.Pro42Ser
NP_006615.2:p.Pro199Ser
NP_997644.2:p.Pro199Ser
NC_000010.10:g.283603C>T
NM_006624.5:c.595C>T
NR_163254.2:n.682C>T

Protein change:

P105S

Molecular consequence:

NM_001202465.3:c.354+748C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001370110.2:c.354+748C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001370113.2:c.516+748C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001370114.2:c.516+748C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001161482.1:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202464.3:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202466.3:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202467.1:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001202468.1:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330057.3:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370097.3:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370098.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370099.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370100.5:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370101.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370102.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370103.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370104.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370105.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370106.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370107.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370108.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370109.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370111.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370112.2:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370115.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370116.2:c.529C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370117.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370118.2:c.475C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370119.2:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370120.2:c.367C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370121.2:c.313C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370122.2:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370123.2:c.382C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001370124.3:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_006624.7:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_212479.4:c.595C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_163254.2:n.682C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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gamma-glutamyl hydrolase precursor [Glycine max]
gamma-glutamyl hydrolase precursor [Glycine max]
gi|351725217|ref|NP_001235549.1|

Protein
50509[uid] AND (alive[prop]) (1)
Gene
COL5A3 collagen type V alpha 3 chain [Homo sapiens]
COL5A3 collagen type V alpha 3 chain [Homo sapiens]
Gene ID:50509

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004982939	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 18, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004982939

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 18, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004982939.1

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

Description

The c.595C>T (p.P199S) alteration is located in exon 1 (coding exon 1) of the ZMYND11 gene. This alteration results from a C to T substitution at nucleotide position 595, causing the proline (P) at amino acid position 199 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

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