NM_198531.5(ATP9B):c.2893C>T (p.Leu965Phe) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 14, 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:: RCV004421007.1

Allele description [Variation Report for NM_198531.5(ATP9B):c.2893C>T (p.Leu965Phe)]

NM_198531.5(ATP9B):c.2893C>T (p.Leu965Phe)

Gene:

ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q23

Genomic location:

Preferred name:

NM_198531.5(ATP9B):c.2893C>T (p.Leu965Phe)

HGVS:

NC_000018.10:g.79348186C>T
NM_001306085.2:c.2893C>T
NM_198531.5:c.2893C>TMANE SELECT
NP_001293014.1:p.Leu965Phe
NP_940933.3:p.Leu965Phe
NC_000018.9:g.77108186C>T
NM_198531.3:c.2893C>T
NR_148360.2:n.3095C>T

Protein change:

L965F

Molecular consequence:

NM_001306085.2:c.2893C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_198531.5:c.2893C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_148360.2:n.3095C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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ZMYND11 zinc finger MYND-type containing 11 [Homo sapiens]
ZMYND11 zinc finger MYND-type containing 11 [Homo sapiens]
Gene ID:10771

Gene
Gene Links for GEO Profiles (Select 44040786) (1)
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004912283	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004912283

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 14, 2023)

germline

clinical testing

Citation Link

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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, SCV004912283.1

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

Description

The c.2893C>T (p.L965F) alteration is located in exon 25 (coding exon 25) of the ATP9B gene. This alteration results from a C to T substitution at nucleotide position 2893, causing the leucine (L) at amino acid position 965 to be replaced by a phenylalanine (F). 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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