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NM_001010889.2(PRAMEF6):c.844G>A (p.Glu282Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 2022
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:
RCV004147294.1

Allele description [Variation Report for NM_001010889.2(PRAMEF6):c.844G>A (p.Glu282Lys)]

NM_001010889.2(PRAMEF6):c.844G>A (p.Glu282Lys)

Gene:
PRAMEF6:PRAME family member 6 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.21
Genomic location:
Preferred name:
NM_001010889.2(PRAMEF6):c.844G>A (p.Glu282Lys)
HGVS:
  • NC_000001.11:g.12941009C>T
  • NM_001010889.2:c.844G>AMANE SELECT
  • NP_001010889.1:p.Glu282Lys
  • NC_000001.10:g.13000839C>T
Protein change:
E282K
Molecular consequence:
  • NM_001010889.2:c.844G>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
SCV003630903Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 24, 2022) 		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, SCV003630903.2

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

Description

The c.844G>A (p.E282K) alteration is located in exon 3 (coding exon 2) of the PRAMEF6 gene. This alteration results from a G to A substitution at nucleotide position 844, causing the glutamic acid (E) at amino acid position 282 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 10, 2024