NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 5, 2018
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:: RCV000757494.8

Allele description [Variation Report for NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr)]

NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr)

Gene:

MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.31

Genomic location:

Preferred name:

NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr)

HGVS:

NC_000005.10:g.7878149G>T
NG_008856.1:g.14046G>T
NM_001364440.2:c.607G>T
NM_001364441.2:c.607G>T
NM_001364442.2:c.607G>T
NM_002454.3:c.607G>TMANE SELECT
NM_024010.4:c.607G>T
NP_001351369.1:p.Asp203Tyr
NP_001351370.1:p.Asp203Tyr
NP_001351371.1:p.Asp203Tyr
NP_002445.2:p.Asp203Tyr
NP_076915.3:p.Asp203Tyr
NC_000005.9:g.7878262G>T
NM_002454.2:c.607G>T
NR_134480.2:n.686G>T
NR_134481.2:n.700G>T
NR_134482.2:n.546G>T
NR_157168.2:n.660G>T
NR_157169.2:n.520G>T
NR_157170.2:n.546G>T
NR_157171.2:n.520G>T
NR_157172.2:n.546G>T
NR_157173.2:n.674G>T
NR_157174.2:n.546G>T
NR_157175.2:n.700G>T
NR_157176.2:n.700G>T
NR_157177.2:n.695G>T
NR_157178.2:n.700G>T

Protein change:

D203Y

Links:

dbSNP: rs1561185945

NCBI 1000 Genomes Browser:

rs1561185945

Molecular consequence:

NM_001364440.2:c.607G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001364441.2:c.607G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001364442.2:c.607G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002454.3:c.607G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_024010.4:c.607G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_134480.2:n.686G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134481.2:n.700G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134482.2:n.546G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157168.2:n.660G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157169.2:n.520G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157170.2:n.546G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157171.2:n.520G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157172.2:n.546G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157173.2:n.674G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157174.2:n.546G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157175.2:n.700G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157176.2:n.700G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157177.2:n.695G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157178.2:n.700G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000885742	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Jan 5, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000885742

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Jan 5, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885742.1

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

Description

The MTRR c.607G>T p.Asp203Tyr variant, to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The aspartic acid at position 203 is weakly conserved, considering 15 species (Alamut software v.2.10.0), and computational analyses of the effects of the p.Asp203Try variant on protein structure and function vary in their conclusions (SIFT: damaging; MutationTaster: polymorphism; PolyPhen-2: possibly damaging). Based on the available information, the clinical significance of the p.Asp203Tyr cannot be predicted with certainty.

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

Last Updated: Mar 4, 2023

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