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NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Mar 4, 2016
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:
RCV000408312.6

Allele description [Variation Report for NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)]

NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)

Gene:
CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)
HGVS:
  • NC_000010.11:g.72008101G>A
  • NG_012635.1:g.48740G>A
  • NM_004273.5:c.1070G>AMANE SELECT
  • NP_004264.2:p.Arg357Gln
  • NC_000010.10:g.73767859G>A
  • NM_004273.4:c.1070G>A
  • Q7LGC8:p.Arg357Gln
Protein change:
R357Q
Links:
UniProtKB: Q7LGC8#VAR_021415; dbSNP: rs3740129
NCBI 1000 Genomes Browser:
rs3740129
Molecular consequence:
  • NM_004273.5:c.1070G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
13

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000340184Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Mar 4, 2016) 		germlineclinical testing

Citation Link,

SCV001956438Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown13not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000340184.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided13not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided13not providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956438.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024