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NM_000257.4(MYH7):c.3086A>C (p.Gln1029Pro) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 18, 2020
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:
RCV001267642.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3086A>C (p.Gln1029Pro)]

NM_000257.4(MYH7):c.3086A>C (p.Gln1029Pro)

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.3086A>C (p.Gln1029Pro)
HGVS:
  • NC_000014.9:g.23423560T>G
  • NG_007884.1:g.17102A>C
  • NM_000257.4:c.3086A>CMANE SELECT
  • NP_000248.2:p.Gln1029Pro
  • LRG_384:g.17102A>C
  • NC_000014.8:g.23892769T>G
  • p.Q1029P
Protein change:
Q1029P
Links:
dbSNP: rs1892569039
NCBI 1000 Genomes Browser:
rs1892569039
Molecular consequence:
  • NM_000257.4:c.3086A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443816Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 18, 2020) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations, SCV001443816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

We observed a genetic variant c.3086A>C (p.Q1029P) in a male proband 3 months old. The proband was diagnosed with left ventricular non-compaction and dilatation of cardiac chambers. To our knowledge the p.Q1029P variant in MYH7 gene in not present in populational databases. Online in silico tools predict the p.Q1029P variant to be probably pathogenic. However, in the absence of functional studies and/or the results of family screening, we could only classify the p.Q1029P variant as a variant of uncertain significance.

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

Last Updated: Nov 5, 2022