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NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) AND not provided

Germline classification:
Benign; other (2 submissions)
Last evaluated:
Nov 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000174348.22

Allele description [Variation Report for NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)]

NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)

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.1781G>A (p.Arg594Gln)
HGVS:
  • NC_000001.11:g.11790870C>T
  • NG_013351.1:g.20234G>A
  • NM_001330358.2:c.1904G>A
  • NM_005957.5:c.1781G>AMANE SELECT
  • NP_001317287.1:p.Arg635Gln
  • NP_005948.3:p.Arg594Gln
  • NP_005948.3:p.Arg594Gln
  • LRG_726t1:c.1781G>A
  • LRG_726:g.20234G>A
  • LRG_726p1:p.Arg594Gln
  • NC_000001.10:g.11850927C>T
  • NM_005957.4:c.1781G>A
  • P42898:p.Arg594Gln
Protein change:
R594Q
Links:
UniProtKB: P42898#VAR_018859; dbSNP: rs2274976
NCBI 1000 Genomes Browser:
rs2274976
Molecular consequence:
  • NM_001330358.2:c.1904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005957.5:c.1781G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
36

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000225634Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
other
(Jan 13, 2017)
germlineclinical testing

Citation Link,

SCV000604290ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Benign
(Nov 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown36not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000225634.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided36not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided36not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000604290.7

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

Last Updated: Jul 15, 2024