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NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 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:
RCV003230836.1

Allele description [Variation Report for NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)]

NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)

Gene:
MMAB:metabolism of cobalamin associated B [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)
HGVS:
  • NC_000012.12:g.109557063_109557065delinsACT
  • NG_007096.1:g.21433_21435delinsAGT
  • NM_052845.3:c.716_718delinsAGT
  • NM_052845.4:c.716_718delinsAGTMANE SELECT
  • NP_443077.1:p.Met239_Lys240delinsLysTer
  • NC_000012.11:g.109994868_109994870delinsACT
  • NR_038118.2:n.827_829delinsAGT
Molecular consequence:
  • NR_038118.2:n.827_829delinsAGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_052845.4:c.716_718delinsAGT - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003928645Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 11, 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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003928645.1

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

Description

Variant summary: MMAB c.716_718delinsAGT (p.Met239LysfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein, but is not expected to result in nonsense-mediated decay. No truncations downstream of this position have been classified as pathogenic by our laboratory or other ClinVar submitters. The variant was absent in 251412 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.716_718delinsAGT in individuals affected with Methylmalonic Acidemia and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 10, 2023