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NM_005609.4(PYGM):c.1366G>A (p.Val456Met) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 20, 2013
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:
RCV000790687.12

Allele description [Variation Report for NM_005609.4(PYGM):c.1366G>A (p.Val456Met)]

NM_005609.4(PYGM):c.1366G>A (p.Val456Met)

Gene:
PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
HGVS:
  • NC_000011.10:g.64753556C>T
  • NG_013018.1:g.12160G>A
  • NM_001164716.1:c.1102G>A
  • NM_005609.4:c.1366G>AMANE SELECT
  • NP_001158188.1:p.Val368Met
  • NP_005600.1:p.Val456Met
  • NP_005600.1:p.Val456Met
  • NC_000011.9:g.64521028C>T
  • NM_005609.2:c.1366G>A
Protein change:
V368M
Links:
dbSNP: rs398124208
NCBI 1000 Genomes Browser:
rs398124208
Molecular consequence:
  • NM_001164716.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005609.4:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000225355Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Sep 20, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225355.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024