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NM_033238.3(PML):c.944G>A (p.Arg315Gln) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 5, 2023
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:
RCV004509626.1

Allele description [Variation Report for NM_033238.3(PML):c.944G>A (p.Arg315Gln)]

NM_033238.3(PML):c.944G>A (p.Arg315Gln)

Gene:
PML:PML nuclear body scaffold [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_033238.3(PML):c.944G>A (p.Arg315Gln)
HGVS:
  • NC_000015.10:g.74023169G>A
  • NG_029036.1:g.33497G>A
  • NM_002675.4:c.944G>A
  • NM_033238.3:c.944G>AMANE SELECT
  • NM_033239.3:c.944G>A
  • NM_033240.3:c.944G>A
  • NM_033242.2:c.944G>A
  • NM_033244.4:c.944G>A
  • NM_033245.2:c.944G>A
  • NM_033246.3:c.944G>A
  • NM_033247.3:c.944G>A
  • NM_033249.3:c.944G>A
  • NM_033250.3:c.944G>A
  • NP_002666.1:p.Arg315Gln
  • NP_150241.2:p.Arg315Gln
  • NP_150242.1:p.Arg315Gln
  • NP_150243.2:p.Arg315Gln
  • NP_150245.2:p.Arg315Gln
  • NP_150247.2:p.Arg315Gln
  • NP_150248.1:p.Arg315Gln
  • NP_150249.1:p.Arg315Gln
  • NP_150250.2:p.Arg315Gln
  • NP_150252.1:p.Arg315Gln
  • NP_150253.2:p.Arg315Gln
  • LRG_1069t1:c.944G>A
  • LRG_1069:g.33497G>A
  • LRG_1069p1:p.Arg315Gln
  • NC_000015.9:g.74315510G>A
  • NM_033238.2:c.944G>A
Protein change:
R315Q
Molecular consequence:
  • NM_002675.4:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033238.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033239.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033240.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033242.2:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033244.4:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033245.2:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033246.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033247.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033249.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033250.3:c.944G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005009698Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 5, 2023) 		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, SCV005009698.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024