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NM_013352.4(DSE):c.95T>C (p.Met32Thr) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Nov 10, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001767658.4

Allele description [Variation Report for NM_013352.4(DSE):c.95T>C (p.Met32Thr)]

NM_013352.4(DSE):c.95T>C (p.Met32Thr)

Gene:
DSE:dermatan sulfate epimerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q22.1
Genomic location:
Preferred name:
NM_013352.4(DSE):c.95T>C (p.Met32Thr)
Other names:
p.Met32Thr
HGVS:
  • NC_000006.12:g.116399345T>C
  • NG_033266.4:g.150175T>C
  • NM_001080976.3:c.95T>C
  • NM_001322937.2:c.95T>C
  • NM_001322938.2:c.95T>C
  • NM_001322939.2:c.152T>C
  • NM_001322940.2:c.-463T>C
  • NM_001322941.2:c.-463T>C
  • NM_001322943.2:c.95T>C
  • NM_001322944.2:c.95T>C
  • NM_001374520.1:c.-806T>C
  • NM_001374521.1:c.-493T>C
  • NM_001374522.1:c.95T>C
  • NM_013352.4:c.95T>CMANE SELECT
  • NP_001074445.1:p.Met32Thr
  • NP_001309866.1:p.Met32Thr
  • NP_001309867.1:p.Met32Thr
  • NP_001309868.1:p.Met51Thr
  • NP_001309872.1:p.Met32Thr
  • NP_001309873.1:p.Met32Thr
  • NP_001361451.1:p.Met32Thr
  • NP_037484.1:p.Met32Thr
  • LRG_1184t1:c.95T>C
  • LRG_1184:g.150175T>C
  • LRG_1184p1:p.Met32Thr
  • NC_000006.11:g.116720508T>C
  • NG_033266.3:g.150194T>C
  • NM_013352.2:c.95T>C
  • NR_136524.2:n.323T>C
Protein change:
M32T
Links:
dbSNP: rs140765634
NCBI 1000 Genomes Browser:
rs140765634
Molecular consequence:
  • NM_001322940.2:c.-463T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001322941.2:c.-463T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374520.1:c.-806T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001374521.1:c.-493T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001080976.3:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322937.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322938.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322939.2:c.152T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322943.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322944.2:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374522.1:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013352.4:c.95T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136524.2:n.323T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001998574GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 10, 2023) 		germlineclinical testing

Citation Link,

SCV004223917Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 25, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

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]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV001998574.3

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV004223917.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024