NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) AND Methylcobalamin deficiency type cblE

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 14, 2020
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:: RCV001420676.1

Allele description [Variation Report for NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)]

NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)

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.1977T>G (p.Asp659Glu)

HGVS:

NC_000005.10:g.7899938T>G
NG_008856.1:g.35835T>G
NM_001364440.2:c.1977T>G
NM_001364441.2:c.1977T>G
NM_001364442.2:c.1977T>G
NM_002454.3:c.1977T>GMANE SELECT
NM_024010.4:c.1977T>G
NP_001351369.1:p.Asp659Glu
NP_001351370.1:p.Asp659Glu
NP_001351371.1:p.Asp659Glu
NP_002445.2:p.Asp659Glu
NP_076915.3:p.Asp659Glu
NC_000005.9:g.7900051T>G
NM_002454.2:c.1977T>G
NR_134480.2:n.2056T>G
NR_134481.2:n.1981T>G
NR_134482.2:n.1916T>G
NR_157168.2:n.2030T>G
NR_157169.2:n.1890T>G
NR_157170.2:n.2056T>G
NR_157171.2:n.1913T>G
NR_157172.2:n.1827T>G
NR_157173.2:n.2067T>G
NR_157174.2:n.2068T>G
NR_157175.2:n.2222T>G
NR_157176.2:n.2385T>G
NR_157177.2:n.2065T>G
NR_157178.2:n.2093T>G

Protein change:

D659E

Links:

dbSNP: rs751318676

NCBI 1000 Genomes Browser:

rs751318676

Molecular consequence:

NM_001364440.2:c.1977T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364441.2:c.1977T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001364442.2:c.1977T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_002454.3:c.1977T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_024010.4:c.1977T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_134480.2:n.2056T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134481.2:n.1981T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_134482.2:n.1916T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157168.2:n.2030T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157169.2:n.1890T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157170.2:n.2056T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157171.2:n.1913T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157172.2:n.1827T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157173.2:n.2067T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157174.2:n.2068T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157175.2:n.2222T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157176.2:n.2385T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157177.2:n.2065T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_157178.2:n.2093T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Methylcobalamin deficiency type cblE (HMAE)
Synonyms:: VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE; Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
Identifiers:: MONDO: MONDO:0009354; MedGen: C1856057; Orphanet: 2169; Orphanet: 622; OMIM: 236270

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001623009	New York Genome Center - CSER-NYCKidSeq	criteria provided, single submitter (NYGC Assertion Criteria 2020)	Uncertain significance (May 14, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001623009

New York Genome Center - CSER-NYCKidSeq

criteria provided, single submitter

(NYGC Assertion Criteria 2020)

Uncertain significance
(May 14, 2020)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV001623009.1

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

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

Last Updated: Dec 24, 2023

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