NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 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:: RCV002473068.1

Allele description

NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)

Genes:

LOC129930446:ATAC-STARR-seq lymphoblastoid active region 972 [Gene]
MMACHC:metabolism of cobalamin associated C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)

HGVS:

NC_000001.11:g.45509032C>A
NG_013378.1:g.13849C>A
NM_001330540.2:c.495C>A
NM_015506.3:c.666C>AMANE SELECT
NP_001317469.1:p.Tyr165Ter
NP_056321.2:p.Tyr222Ter
NC_000001.10:g.45974704C>A
NM_015506.2:c.666C>A

Protein change:

Y165*

Links:

dbSNP: rs201266016

NCBI 1000 Genomes Browser:

rs201266016

Molecular consequence:

NM_001330540.2:c.495C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_015506.3:c.666C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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D299_gp287 [Escherichia phage HX01]
D299_gp287 [Escherichia phage HX01]
Gene ID:75507318

Gene
D299_gp274 [Escherichia phage HX01]
D299_gp274 [Escherichia phage HX01]
Gene ID:75507305

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002770008	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002770008

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Dec 21, 2022)

germline

clinical testing

Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002770008.1

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

Description

Nonsense variant predicted to result in protein truncation, as the last 61 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31470807, 31503356, 31998365, 22447314, 32943488, 31589614, 26825575, 18164228, 19370762, 34215320, 33691766, 34102818, 35361390, 28481040, 16311595, 33473346, 30157807)

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

Last Updated: Jun 17, 2024

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