U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 13, 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:
RCV000222375.4

Allele description [Variation Report for NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)]

NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
HGVS:
  • NC_000014.9:g.23422287C>T
  • NG_007884.1:g.18375G>A
  • NM_000257.4:c.3138G>AMANE SELECT
  • NP_000248.2:p.Met1046Ile
  • LRG_384t1:c.3138G>A
  • LRG_384:g.18375G>A
  • NC_000014.8:g.23891496C>T
  • NM_000257.2:c.3138G>A
  • NM_000257.3:c.3138G>A
Protein change:
M1046I
Links:
dbSNP: rs201195256
NCBI 1000 Genomes Browser:
rs201195256
Molecular consequence:
  • NM_000257.4:c.3138G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV000272043Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Apr 13, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

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, SCV000272043.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The p.Met1046Il e variant in MYH7 has not been previously reported in individuals with cardiomyo pathy, but has been identified in 3/66740 European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201195256). Me thionine (Met) at position 1046 is highly conserved in mammals and is moderately conserved across evolutionarily distant species and the change to isoleucine (I le) was predicted to be pathogenic using a computational tool clinically validat ed by our laboratory. This tool's pathogenic prediction is estimated to be corre ct 94% of the time (Jordan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Met1046Ile variant is unce rtain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024