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NM_016529.6(ATP8A2):c.497T>C (p.Met166Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 29, 2022
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:
RCV002645408.2

Allele description [Variation Report for NM_016529.6(ATP8A2):c.497T>C (p.Met166Thr)]

NM_016529.6(ATP8A2):c.497T>C (p.Met166Thr)

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.497T>C (p.Met166Thr)
HGVS:
  • NC_000013.11:g.25533303T>C
  • NG_042855.1:g.166293T>C
  • NM_001313741.1:c.377T>C
  • NM_001411005.1:c.497T>C
  • NM_001411006.1:c.497T>C
  • NM_016529.6:c.497T>CMANE SELECT
  • NP_001300670.1:p.Met126Thr
  • NP_001397934.1:p.Met166Thr
  • NP_001397935.1:p.Met166Thr
  • NP_057613.4:p.Met166Thr
  • NC_000013.10:g.26107441T>C
  • NM_016529.4:c.497T>C
Protein change:
M126T
Molecular consequence:
  • NM_001313741.1:c.377T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411005.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001411006.1:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016529.6:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003534968Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 29, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003534968.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.497T>C (p.M166T) alteration is located in exon 6 (coding exon 6) of the ATP8A2 gene. This alteration results from a T to C substitution at nucleotide position 497, causing the methionine (M) at amino acid position 166 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024