NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 25, 2022
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:: RCV002534782.2

Allele description [Variation Report for NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)]

NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)

Gene:

GYS1:glycogen synthase 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19q13.33

Genomic location:

Preferred name:

NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)

HGVS:

NC_000019.10:g.48974726_48974727delinsTT
NG_012923.1:g.23627_23628delinsAA
NM_001161587.2:c.1123_1124delinsAA
NM_002103.5:c.1315_1316delinsAAMANE SELECT
NP_001155059.1:p.Ser375Asn
NP_002094.2:p.Ser439Asn
NC_000019.9:g.49477983_49477984delinsTT
NM_002103.4:c.1315_1316delTCinsAA
NR_027763.2:n.1330_1331delinsAA

Protein change:

S375N

Links:

dbSNP: rs1600135048

NCBI 1000 Genomes Browser:

rs1600135048

Molecular consequence:

NM_001161587.2:c.1123_1124delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NM_002103.5:c.1315_1316delinsAA - missense variant - [Sequence Ontology: SO:0001583]
NR_027763.2:n.1330_1331delinsAA - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003654887	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 25, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003654887

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 25, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003654887.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.1315_1316delTCinsAA (p.S439N) alteration, located in exon 11 (coding exon 11) of the GYS1 gene, consists of an in-frame substitution of 2 nucleotides from position 1315 to 1316, causing the serine (S) at amino acid position 439 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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