NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) AND not provided

Germline classification:: Benign (2 submissions)
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:: RCV000675306.6

Allele description [Variation Report for NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)]

NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)

Gene:

PGM1:phosphoglucomutase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

Preferred name:

NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)

HGVS:

NC_000001.11:g.63648630T>C
NG_016966.1:g.60355T>C
NM_001172818.1:c.1312T>C
NM_001172819.2:c.667T>C
NM_002633.3:c.1258T>CMANE SELECT
NP_001166289.1:p.Tyr438His
NP_001166290.1:p.Tyr223His
NP_002624.2:p.Tyr420His
NC_000001.10:g.64114301T>C
NM_002633.2:c.1258T>C
P36871:p.Tyr420His

Protein change:

Y223H

Links:

UniProtKB: P36871#VAR_006092; dbSNP: rs11208257

NCBI 1000 Genomes Browser:

rs11208257

Molecular consequence:

NM_001172818.1:c.1312T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001172819.2:c.667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002633.3:c.1258T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800971	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Benign (Oct 23, 2015)	unknown	clinical testing
SCV005287306	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800971

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Benign
(Oct 23, 2015)

unknown

clinical testing

SCV005287306

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

not provided

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800971.1

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

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

From Breakthrough Genomics, Breakthrough Genomics, SCV005287306.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

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

Last Updated: Sep 29, 2024

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