NM_015713.4(RRM2B):c.1A>G (p.Met1Val) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000493307.1

Allele description [Variation Report for NM_015713.4(RRM2B):c.1A>G (p.Met1Val)]

NM_015713.4(RRM2B):c.1A>G (p.Met1Val)

Gene:
RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.3
Genomic location:
Preferred name:
NM_015713.4(RRM2B):c.1A>G (p.Met1Val)
HGVS:
  • NC_000008.11:g.102238874T>C
  • NG_016617.1:g.5245A>G
  • NM_001172478.2:c.1A>G
  • NM_015713.4:c.1A>G
  • NP_001165949.1:p.Met1Val
  • NP_056528.2:p.Met1Val
  • LRG_788t2:c.1A>G
  • LRG_788:g.5245A>G
  • LRG_788p2:p.Met1Val
  • NC_000008.10:g.103251102T>C
Protein change:
M1V
Links:
dbSNP: rs772913758
NCBI 1000 Genomes Browser:
rs772913758
Molecular consequence:
  • NM_001172478.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001172478.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015713.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000583263GeneDxcriteria provided, single submitter
Likely pathogenic
(Sep 8, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000583263.4

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

Description

The c.1 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1 A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1 A>G variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded."

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

Last Updated: Feb 27, 2021

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