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NM_021957.4(GYS2):c.2067C>T (p.His689=) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 12, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000675347.7

Allele description [Variation Report for NM_021957.4(GYS2):c.2067C>T (p.His689=)]

NM_021957.4(GYS2):c.2067C>T (p.His689=)

Gene:
GYS2:glycogen synthase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_021957.4(GYS2):c.2067C>T (p.His689=)
Other names:
p.H689H:CAC>CAT
HGVS:
  • NC_000012.12:g.21536999G>A
  • NG_016167.1:g.72849C>T
  • NM_021957.4:c.2067C>TMANE SELECT
  • NP_068776.2:p.His689=
  • LRG_1293t1:c.2067C>T
  • LRG_1293:g.72849C>T
  • LRG_1293p1:p.His689=
  • NC_000012.11:g.21689933G>A
  • NM_021957.3:c.2067C>T
Links:
dbSNP: rs7954038
NCBI 1000 Genomes Browser:
rs7954038
Molecular consequence:
  • NM_021957.4:c.2067C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000801013Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Benign
(Apr 12, 2017) 		unknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801013.1

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

Last Updated: Mar 10, 2024