NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) AND not provided

Germline classification:: no classifications from unflagged records (1 submission)
Review status:: no classifications from unflagged records

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:: RCV000171157.4

Allele description [Variation Report for NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)]

NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)

Gene:

PHGDH:phosphoglycerate dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p12

Genomic location:

Preferred name:

NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)

HGVS:

NC_000001.11:g.119727010G>A
NG_009188.1:g.20215G>A
NM_006623.4:c.418G>AMANE SELECT
NP_006614.2:p.Gly140Arg
NC_000001.10:g.120269633G>A
NM_006623.3:c.418G>A
O43175:p.Gly140Arg

Protein change:

G140R; GLY140ARG

Links:

UniProtKB: O43175#VAR_071819; OMIM: 606879.0007; dbSNP: rs587777770

NCBI 1000 Genomes Browser:

rs587777770

Molecular consequence:

NM_006623.4:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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No clinical assertions found. See "Flagged submissions" below.

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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	research

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 Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre, SCV000221353.1

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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000221353	Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV000221353 appears to be redundant with SCV004801211. (ACMG Guidelines, 2015)	Likely pathogenic	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000221353

Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

flagged submission

Reason: This record appears to be redundant with a more recent record from the same submitter.

Notes: SCV000221353 appears to be redundant with SCV004801211.

(ACMG Guidelines, 2015)

Likely pathogenic

germline

research

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

Last Updated: May 25, 2025

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