NM_016529.6(ATP8A2):c.397A>C (p.Ile133Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 12, 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:: RCV004418824.1

Allele description [Variation Report for NM_016529.6(ATP8A2):c.397A>C (p.Ile133Leu)]

NM_016529.6(ATP8A2):c.397A>C (p.Ile133Leu)

Gene:

ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.13

Genomic location:

Preferred name:

NM_016529.6(ATP8A2):c.397A>C (p.Ile133Leu)

HGVS:

NC_000013.11:g.25530637A>C
NG_042855.1:g.163627A>C
NM_001313741.1:c.277A>C
NM_001411005.1:c.397A>C
NM_001411006.1:c.397A>C
NM_016529.6:c.397A>CMANE SELECT
NP_001300670.1:p.Ile93Leu
NP_001397934.1:p.Ile133Leu
NP_001397935.1:p.Ile133Leu
NP_057613.4:p.Ile133Leu
NC_000013.10:g.26104775A>C
NM_016529.4:c.397A>C

Protein change:

I133L

Molecular consequence:

NM_001313741.1:c.277A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001411005.1:c.397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001411006.1:c.397A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_016529.6:c.397A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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Microbe sample from Pseudarthrobacter sp. strain RMG13
Microbe sample from Pseudarthrobacter sp. strain RMG13

biosample
EF-hand calcium-binding domain-containing protein 7 [Rattus norvegicus]
EF-hand calcium-binding domain-containing protein 7 [Rattus norvegicus]
gi|300798062|ref|NP_001178795.1|

Protein
PREDICTED: Rattus norvegicus EF-hand calcium binding domain 7 (Efcab7), transcri...
PREDICTED: Rattus norvegicus EF-hand calcium binding domain 7 (Efcab7), transcript variant X4, mRNA
gi|2678945298|ref|XM_039110290.2|

Nucleotide
Homo sapiens natriuretic peptide receptor 3 (NPR3), transcript variant 1, mRNA
Homo sapiens natriuretic peptide receptor 3 (NPR3), transcript variant 1, mRNA
gi|1519243051|ref|NM_001204375.2|

Nucleotide
unconventional myosin-If [Rattus norvegicus]
unconventional myosin-If [Rattus norvegicus]
gi|157821107|ref|NP_001101546.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004913468	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 12, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004913468

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 12, 2024)

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, SCV004913468.1

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

Description

The c.397A>C (p.I133L) alteration is located in exon 4 (coding exon 4) of the ATP8A2 gene. This alteration results from a A to C substitution at nucleotide position 397, causing the isoleucine (I) at amino acid position 133 to be replaced by a leucine (L). 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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