NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 28, 2021
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:: RCV002476918.2

Allele description [Variation Report for NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)]

NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)

Gene:

MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

Preferred name:

NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)

Other names:

R158Q

HGVS:

NC_000001.11:g.11801166C>T
NG_008766.1:g.17C>T
NG_013351.1:g.9938G>A
NM_001330358.2:c.593G>A
NM_005957.5:c.470G>AMANE SELECT
NP_001317287.1:p.Arg198Gln
NP_005948.3:p.Arg157Gln
LRG_726:g.9938G>A
NC_000001.10:g.11861223C>T
P42898:p.Arg157Gln

Protein change:

R157Q; ARG158GLN

Links:

UniProtKB: P42898#VAR_004320; OMIM: 607093.0002; dbSNP: rs121434295

NCBI 1000 Genomes Browser:

rs121434295

Molecular consequence:

NM_001330358.2:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005957.5:c.470G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Synonyms:: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY; Homocysteinemia due to MTHFR deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009353; MedGen: C1856061; Orphanet: 395; OMIM: 236250

Name:: Neural tube defects, folate-sensitive (NTDFS)
Synonyms:: NTD, FOLATE-SENSITIVE
Identifiers:: MONDO: MONDO:0011120; MedGen: C1866558; Orphanet: 823; OMIM: 601634

Name:: Schizophrenia (SCZD)
Identifiers:: MONDO: MONDO:0005090; MeSH: D012559; MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753

Name:: Thrombophilia due to thrombin defect (THPH1)
Synonyms:: Thrombosis susceptibility; THROMBOPHILIA DUE TO FACTOR 2 DEFECT; Prothrombin-Related Thrombophilia (Factor II)
Identifiers:: MONDO: MONDO:0008559; MedGen: C3160733; OMIM: 188050

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002801356	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 28, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002801356

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 28, 2021)

unknown

clinical testing

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	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 Fulgent Genetics, Fulgent Genetics, SCV002801356.1

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

#	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

Last Updated: Aug 18, 2024

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