U.S. flag

An official website of the United States government

NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2017
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:
RCV000424166.10

Allele description [Variation Report for NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)]

NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)

Gene:
MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
HGVS:
  • NC_000012.12:g.109557125T>C
  • NG_007096.1:g.21373A>G
  • NM_052845.4:c.656A>GMANE SELECT
  • NP_443077.1:p.Tyr219Cys
  • NP_443077.1:p.Tyr219Cys
  • NC_000012.11:g.109994930T>C
  • NM_052845.3:c.656A>G
  • NR_038118.2:n.767A>G
Protein change:
Y219C
Links:
dbSNP: rs765547005
NCBI 1000 Genomes Browser:
rs765547005
Molecular consequence:
  • NM_052845.4:c.656A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038118.2:n.767A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000520445GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 20, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000520445.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Y219C variant has previously been reported in association with methylmalonic acidemia (MMA), cblB type in two individuals who were also heterozygous for two other variants in the MMAB gene; the phase of these variants was not determined (Lerner-Ellis et al., 2006). The Y219C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024