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NM_004130.4(GYG1):c.429T>C (p.Val143=) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 9, 2022
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV002606507.3

Allele description [Variation Report for NM_004130.4(GYG1):c.429T>C (p.Val143=)]

NM_004130.4(GYG1):c.429T>C (p.Val143=)

Gene:
GYG1:glycogenin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q24
Genomic location:
Preferred name:
NM_004130.4(GYG1):c.429T>C (p.Val143=)
HGVS:
  • NC_000003.12:g.148996852T>C
  • NG_027677.1:g.10445T>C
  • NG_027677.2:g.10314T>C
  • NM_001184720.2:c.429T>C
  • NM_001184721.2:c.429T>C
  • NM_004130.4:c.429T>CMANE SELECT
  • NP_001171649.1:p.Val143=
  • NP_001171650.1:p.Val143=
  • NP_004121.2:p.Val143=
  • NC_000003.11:g.148714639T>C
...more
Molecular consequence:
  • NM_001184720.2:c.429T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001184721.2:c.429T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004130.4:c.429T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Glycogen storage disease XV (GSD15)
Synonyms:
GLYCOGENIN DEFICIENCY; GSD XV
Identifiers:
MONDO: MONDO:0013291; MedGen: C3150754; Orphanet: 263297; OMIM: 613507
Name:
Polyglucosan body myopathy type 2
Identifiers:
MONDO: MONDO:0014526; MedGen: C4015452; Orphanet: 456369; OMIM: 616199

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003505106Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(May 9, 2022)
germlineclinical testing

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

Last Updated: Sep 29, 2024

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