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NM_002103.5(GYS1):c.1332C>T (p.Cys444=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 31, 2018
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:
RCV000835768.3

Allele description [Variation Report for NM_002103.5(GYS1):c.1332C>T (p.Cys444=)]

NM_002103.5(GYS1):c.1332C>T (p.Cys444=)

Gene:
GYS1:glycogen synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
HGVS:
  • NC_000019.10:g.48974710G>A
  • NG_012923.1:g.23644C>T
  • NM_001161587.2:c.1140C>T
  • NM_002103.5:c.1332C>TMANE SELECT
  • NP_001155059.1:p.Cys380=
  • NP_002094.2:p.Cys444=
  • NC_000019.9:g.49477967G>A
  • NM_002103.4:c.1332C>T
  • NR_027763.2:n.1347C>T
Links:
dbSNP: rs377125421
NCBI 1000 Genomes Browser:
rs377125421
Molecular consequence:
  • NR_027763.2:n.1347C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001161587.2:c.1140C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002103.5:c.1332C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000977585GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 31, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000977585.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024