U.S. flag

An official website of the United States government

NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) AND MMACHC-related condition

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2022
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:
RCV003407684.4

Allele description [Variation Report for NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)]

NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)

Gene:
MMACHC:metabolism of cobalamin associated C [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
HGVS:
  • NC_000001.10:g.45973989_45973991del
  • NC_000001.11:g.45508317TAC[2]
  • NG_013378.1:g.13134TAC[2]
  • NM_001330540.2:c.211TAC[2]
  • NM_015506.3:c.382TAC[2]MANE SELECT
  • NM_015506.3:c.388_390delTAC
  • NP_001317469.1:p.Tyr73del
  • NP_056321.2:p.Tyr130del
  • NC_000001.10:g.45973989TAC[2]
  • NC_000001.10:g.45973989_45973991del
  • NC_000001.10:g.45973995_45973997delTAC
  • NM_015506.2:c.388_390del
  • NM_015506.2:c.388_390delTAC
  • NM_015506.3:c.382TAC[2]
  • NM_015506.3:c.388_390delMANE SELECT
  • NM_015506.3:c.388_390delTACMANE SELECT
  • p.Y130del
Protein change:
Y130del
Links:
dbSNP: rs796051998
NCBI 1000 Genomes Browser:
rs796051998
Molecular consequence:
  • NM_001330540.2:c.211TAC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_015506.3:c.382TAC[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
MMACHC-related condition
Identifiers:

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
SCV004114095PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 18, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114095.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MMACHC c.388_390delTAC variant is predicted to result in an in-frame deletion (p.Tyr130del). This variant is a recurrent variant that has been reported in the homozygous state or along with a second pathogenic MMACHC variant in multiple individuals with confirmed methylmalonic aciduria, cblC type (Lerner-Ellis et al. 2006. PubMed ID: 16311595; Gizicki et al. 2013. PubMed ID: 24126030; Bourque et al. 2020. PubMed ID: 33473346). This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-45973988-TTAC-T). This variant is interpreted as pathogenic.

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

Last Updated: Mar 16, 2024