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NM_001393986.1(PRDM2):c.5095C>A (p.Gln1699Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 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:
RCV004145870.1

Allele description [Variation Report for NM_001393986.1(PRDM2):c.5095C>A (p.Gln1699Lys)]

NM_001393986.1(PRDM2):c.5095C>A (p.Gln1699Lys)

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.5095C>A (p.Gln1699Lys)
HGVS:
  • NC_000001.11:g.13816485C>A
  • NM_001135610.2:c.570C>A
  • NM_001393986.1:c.5095C>AMANE SELECT
  • NM_001393987.1:c.4492C>A
  • NM_012231.5:c.5095C>A
  • NP_001129082.1:p.Gly190=
  • NP_001380915.1:p.Gln1699Lys
  • NP_001380916.1:p.Gln1498Lys
  • NP_036363.2:p.Gln1699Lys
  • NC_000001.10:g.14142980C>A
  • NM_012231.4:c.5095C>A
Protein change:
Q1498K
Molecular consequence:
  • NM_001393986.1:c.5095C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393987.1:c.4492C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012231.5:c.5095C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135610.2:c.570C>A - 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
SCV003621372Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 18, 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, SCV003621372.2

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

Description

The c.5095C>A (p.Q1699K) alteration is located in exon 9 (coding exon 8) of the PRDM2 gene. This alteration results from a C to A substitution at nucleotide position 5095, causing the glutamine (Q) at amino acid position 1699 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