NM_054027.6(ANKH):c.-4G>A AND not provided

Clinical significance:Benign (Last evaluated: Nov 13, 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:
RCV001510110.3

Allele description [Variation Report for NM_054027.6(ANKH):c.-4G>A]

NM_054027.6(ANKH):c.-4G>A

Gene:
ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.2
Genomic location:
Preferred name:
NM_054027.6(ANKH):c.-4G>A
HGVS:
  • NC_000005.10:g.14871451C>T
  • NG_008273.2:g.5335G>A
  • NM_054027.6:c.-4G>AMANE SELECT
  • LRG_1362t1:c.-4G>A
  • LRG_1362:g.5335G>A
  • NC_000005.9:g.14871560C>T
  • NM_054027.4:c.-4G>A
Links:
dbSNP: rs78431233
NCBI 1000 Genomes Browser:
rs78431233
Molecular consequence:
  • NM_054027.6:c.-4G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001717052Invitaecriteria provided, single submitter
Benign
(Nov 13, 2020)
germlineclinical testing

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

SCV001863758GeneDxcriteria provided, single submitter
Benign
(Dec 12, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot 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, SCV001717052.1

#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 GeneDx, SCV001863758.1

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

Description

This variant is associated with the following publications: (PMID: 15818664, 21811784, 23315997)

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

Last Updated: Sep 23, 2021

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