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NM_001393986.1(PRDM2):c.5073A>G (p.Pro1691=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 28, 2024
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:
RCV004512825.1

Allele description [Variation Report for NM_001393986.1(PRDM2):c.5073A>G (p.Pro1691=)]

NM_001393986.1(PRDM2):c.5073A>G (p.Pro1691=)

Gene:
PRDM2:PR/SET domain 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.21
Genomic location:
Preferred name:
NM_001393986.1(PRDM2):c.5073A>G (p.Pro1691=)
HGVS:
  • NC_000001.11:g.13816463A>G
  • NM_001135610.2:c.548A>G
  • NM_001393986.1:c.5073A>GMANE SELECT
  • NM_001393987.1:c.4470A>G
  • NM_012231.5:c.5073A>G
  • NP_001129082.1:p.Gln183Arg
  • NP_001380915.1:p.Pro1691=
  • NP_001380916.1:p.Pro1490=
  • NP_036363.2:p.Pro1691=
  • NC_000001.10:g.14142958A>G
  • NM_012231.4:c.5073A>G
Protein change:
Q183R
Molecular consequence:
  • NM_001135610.2:c.548A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393986.1:c.5073A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001393987.1:c.4470A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_012231.5:c.5073A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV005011556Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 28, 2024) 		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, SCV005011556.1

#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