NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala) AND Vascular dementia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 1, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002051761.9

Allele description [Variation Report for NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala)]

NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala)

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.938G>C (p.Gly313Ala)

HGVS:

NC_000001.11:g.11795191C>G
NG_013351.1:g.15913G>C
NM_001330358.2:c.1061G>C
NM_005957.5:c.938G>CMANE SELECT
NP_001317287.1:p.Gly354Ala
NP_005948.3:p.Gly313Ala
LRG_726:g.15913G>C
NC_000001.10:g.11855248C>G

Protein change:

G313A

Links:

dbSNP: rs200890679

NCBI 1000 Genomes Browser:

rs200890679

Molecular consequence:

NM_001330358.2:c.1061G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005957.5:c.938G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Vascular dementia
Identifiers:: MONDO: MONDO:0004648; MeSH: D015140; MedGen: C0011269

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001983982	Myllykangas group, University of Helsinki	no assertion criteria provided	Uncertain significance (Oct 1, 2021)	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

SCV001983982

Myllykangas group, University of Helsinki

no assertion criteria provided

Uncertain significance
(Oct 1, 2021)

germline

research

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	research

Citations

PubMed

Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre S, Kuuluvainen L, Schleutker J, Bras J, Roine S, Pöyhönen M, Guerreiro R, Myllykangas L.

Acta Neurol Scand. 2022 Jul;146(1):42-50. doi: 10.1111/ane.13613. Epub 2022 Mar 20.

PubMed [citation]

PMID:: 35307828
PMCID:: PMC9314039

Details of each submission

From Myllykangas group, University of Helsinki, SCV001983982.1

#	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

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine