NM_005859.5(PURA):c.543C>A (p.Gly181=) AND Mental retardation, autosomal dominant 31

Clinical significance:Likely benign (Last evaluated: Jun 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001502147.1

Allele description [Variation Report for NM_005859.5(PURA):c.543C>A (p.Gly181=)]

NM_005859.5(PURA):c.543C>A (p.Gly181=)

Gene:
PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005859.5(PURA):c.543C>A (p.Gly181=)
HGVS:
  • NC_000005.10:g.140114724C>A
  • NG_041813.1:g.5602C>A
  • NM_005859.5:c.543C>AMANE SELECT
  • NP_005850.1:p.Gly181=
  • NC_000005.9:g.139494309C>A
Molecular consequence:
  • NM_005859.5:c.543C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Mental retardation, autosomal dominant 31 (NEDRIHF)
Synonyms:
NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
Identifiers:
MONDO: MONDO:0018580; MedGen: C4015357; Orphanet: 438216; OMIM: 616158

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001706972Invitaecriteria provided, single submitter
Likely benign
(Jun 17, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
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, SCV001706972.1

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

Last Updated: Aug 20, 2021

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