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NM_014669.5(NUP93):c.558G>A (p.Ala186=) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Jan 23, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001565375.8

Allele description

NM_014669.5(NUP93):c.558G>A (p.Ala186=)

Gene:
NUP93:nucleoporin 93 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_014669.5(NUP93):c.558G>A (p.Ala186=)
HGVS:
  • NC_000016.10:g.56818732G>A
  • NG_052904.1:g.93628G>A
  • NM_001242795.2:c.189G>A
  • NM_001242796.2:c.189G>A
  • NM_014669.5:c.558G>AMANE SELECT
  • NP_001229724.1:p.Ala63=
  • NP_001229725.1:p.Ala63=
  • NP_055484.3:p.Ala186=
  • NC_000016.9:g.56852644G>A
  • NM_014669.4:c.558G>A
Links:
dbSNP: rs35687281
NCBI 1000 Genomes Browser:
rs35687281
Molecular consequence:
  • NM_001242795.2:c.189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001242796.2:c.189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014669.5:c.558G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001788712GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Mar 18, 2021) 		germlineclinical testing

Citation Link,

SCV002407463Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 23, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV001788712.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV002407463.3

#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: Feb 28, 2024