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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Jan 3, 2020
Accession:
VCV001030274.1
Variation ID:
1030274
Description:
single nucleotide variant
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NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)

Allele ID
1017932
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.2
Genomic location
15: 51488579 (GRCh38) GRCh38 UCSC
15: 51780776 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.51488579T>G
NC_000015.9:g.51780776T>G
NM_001378457.1:c.5020A>C MANE Select NP_001365386.1:p.Lys1674Gln missense
... more HGVS
Protein change
K1594Q, K1674Q, K1001Q, K1038Q
Other names
-
Canonical SPDI
NC_000015.10:51488578:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 3, 2020 RCV001331789.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DMXL2 No evidence available No evidence available GRCh38
GRCh37
116 140

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 03, 2020)
criteria provided, single submitter
Method: clinical testing
Polyendocrine-polyneuropathy syndrome
Allele origin: unknown
Baylor Genetics
Accession: SCV001523904.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Apr 08, 2021