NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) AND Familial hemiplegic migraine

Clinical significance:Benign (Last evaluated: Dec 8, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000226425.7

Allele description [Variation Report for NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)]

NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)

Gene:
ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.2
Genomic location:
Preferred name:
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=)
Other names:
p.K43K:AAG>AAA
HGVS:
  • NC_000001.11:g.160121203G>A
  • NG_008014.1:g.10446G>A
  • NM_000702.4:c.129G>AMANE SELECT
  • NP_000693.1:p.Lys43=
  • LRG_6:g.10446G>A
  • NC_000001.10:g.160090993G>A
  • NM_000702.3:c.129G>A
Links:
dbSNP: rs61734527
NCBI 1000 Genomes Browser:
rs61734527
Molecular consequence:
  • NM_000702.4:c.129G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Familial hemiplegic migraine
Identifiers:
MONDO: MONDO:0000700; MedGen: C0338484; OMIM: PS141500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000285579Invitaecriteria provided, single submitter
Benign
(Dec 8, 2020)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000846456Ambry Geneticscriteria provided, single submitter
Benign
(May 2, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000285579.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Ambry Genetics, SCV000846456.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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