NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln) AND Polyendocrine-polyneuropathy syndrome

Clinical significance:Uncertain significance (Last evaluated: Jan 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)]

NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)

DMXL2:Dmx like 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)
  • NC_000015.10:g.51488579T>G
  • NG_017155.1:g.139192A>C
  • NM_001174116.3:c.5020A>C
  • NM_001174117.3:c.3112A>C
  • NM_001378457.1:c.5020A>CMANE SELECT
  • NM_001378458.1:c.5020A>C
  • NM_001378459.1:c.5020A>C
  • NM_001378460.1:c.3001A>C
  • NM_001378461.1:c.5020A>C
  • NM_001378462.1:c.5020A>C
  • NM_001378463.1:c.5020A>C
  • NM_001378464.1:c.4780A>C
  • NM_015263.5:c.5020A>C
  • NP_001167587.1:p.Lys1674Gln
  • NP_001167588.1:p.Lys1038Gln
  • NP_001365386.1:p.Lys1674Gln
  • NP_001365387.1:p.Lys1674Gln
  • NP_001365388.1:p.Lys1674Gln
  • NP_001365389.1:p.Lys1001Gln
  • NP_001365390.1:p.Lys1674Gln
  • NP_001365391.1:p.Lys1674Gln
  • NP_001365392.1:p.Lys1674Gln
  • NP_001365393.1:p.Lys1594Gln
  • NP_056078.2:p.Lys1674Gln
  • NC_000015.9:g.51780776T>G
  • NM_001174116.1:c.5020A>C
  • NR_165648.1:n.5246A>C
  • NR_165649.1:n.5246A>C
Protein change:
Molecular consequence:
  • NM_001174116.3:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001174117.3:c.3112A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378457.1:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378458.1:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378459.1:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378460.1:c.3001A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378461.1:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378462.1:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378463.1:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378464.1:c.4780A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015263.5:c.5020A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_165648.1:n.5246A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_165649.1:n.5246A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Polyendocrine-polyneuropathy syndrome (PEPNS)
MONDO: MONDO:0014497; MedGen: C4015261; Orphanet: 453533; OMIM: 616113

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001523904Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Jan 3, 2020)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Details of each submission

From Baylor Genetics, SCV001523904.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)


This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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