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NM_172250.3(MMAA):c.307G>A (p.Glu103Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 20, 2023
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:
RCV004514053.1

Allele description [Variation Report for NM_172250.3(MMAA):c.307G>A (p.Glu103Lys)]

NM_172250.3(MMAA):c.307G>A (p.Glu103Lys)

Gene:
MMAA:metabolism of cobalamin associated A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q31.21
Genomic location:
Preferred name:
NM_172250.3(MMAA):c.307G>A (p.Glu103Lys)
HGVS:
  • NC_000004.12:g.145639446G>A
  • NG_007536.2:g.45405G>A
  • NM_001375644.1:c.307G>A
  • NM_172250.3:c.307G>AMANE SELECT
  • NP_001362573.1:p.Glu103Lys
  • NP_758454.1:p.Glu103Lys
  • LRG_1301t1:c.307G>A
  • LRG_1301:g.45405G>A
  • LRG_1301p1:p.Glu103Lys
  • NC_000004.11:g.146560598G>A
  • NM_172250.2:c.307G>A
Protein change:
E103K
Molecular consequence:
  • NM_001375644.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172250.3:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005006580Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005006580.1

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

Description

The c.307G>A (p.E103K) alteration is located in exon 2 (coding exon 1) of the MMAA gene. This alteration results from a G to A substitution at nucleotide position 307, causing the glutamic acid (E) at amino acid position 103 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024