NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 7, 2015
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:: RCV000219072.4

Allele description [Variation Report for NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly)]

NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly)

Gene:

MYOM1:myomesin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.31

Genomic location:

Preferred name:

NM_003803.4(MYOM1):c.1235A>G (p.Asp412Gly)

HGVS:

NC_000018.10:g.3168921T>C
NG_032120.1:g.56188A>G
NM_003803.4:c.1235A>GMANE SELECT
NM_019856.2:c.1235A>G
NP_003794.3:p.Asp412Gly
NP_003794.3:p.Asp412Gly
NP_062830.1:p.Asp412Gly
LRG_426t1:c.1235A>G
LRG_426:g.56188A>G
LRG_426p1:p.Asp412Gly
NC_000018.9:g.3168919T>C
NM_003803.3:c.1235A>G

Protein change:

D412G

Links:

dbSNP: rs767444514

NCBI 1000 Genomes Browser:

rs767444514

Molecular consequence:

NM_003803.4:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_019856.2:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000272163	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Jul 7, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21798893, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000272163

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Jul 7, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

The mutational landscape of head and neck squamous cell carcinoma.

Stransky N, Egloff AM, Tward AD, Kostic AD, Cibulskis K, Sivachenko A, Kryukov GV, Lawrence MS, Sougnez C, McKenna A, Shefler E, Ramos AH, Stojanov P, Carter SL, Voet D, Cortés ML, Auclair D, Berger MF, Saksena G, Guiducci C, Onofrio RC, Parkin M, et al.

Science. 2011 Aug 26;333(6046):1157-60. doi: 10.1126/science.1208130. Epub 2011 Jul 28.

PubMed [citation]

PMID:: 21798893
PMCID:: PMC3415217

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000272163.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

The p.Asp412Gly variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/64312 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s767444514). Aspartic acid (Asp) at position 412 is not highly conserved in mamm als or evolutionarily distant species and 15 reptile and fish species carry a gl ycine (Gly) at this position, raising the possibility that this change may be to lerated. However, in silico models suggest this variant may impact splicing, but this information is not predictive enough to determine pathogenicity. In summar y, the clinical significance of the p.Asp412Gly variant is uncertain.

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

Last Updated: Dec 24, 2022

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