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NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2014
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:
RCV000156905.4

Allele description [Variation Report for NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser)]

NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser)

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.4075C>A (p.Arg1359Ser)
HGVS:
  • NC_000014.9:g.23418304G>T
  • NG_007884.1:g.22358C>A
  • NM_000257.4:c.4075C>AMANE SELECT
  • NP_000248.2:p.Arg1359Ser
  • LRG_384t1:c.4075C>A
  • LRG_384:g.22358C>A
  • NC_000014.8:g.23887513G>T
  • NM_000257.2:c.4075C>A
  • NM_000257.3:c.4075C>A
Protein change:
R1359S
Links:
dbSNP: rs45451303
NCBI 1000 Genomes Browser:
rs45451303
Molecular consequence:
  • NM_000257.4:c.4075C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206626Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Nov 28, 2014) 		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, SCV000206626.4

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

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The p.Arg1359Se r variant in MYH7 has not been previously reported in individuals with cardiomyo pathy or in large population studies. Arginine (Arg) at position 1359 is highly conserved in evolution and the change to Serine (Ser) was predicted to be pathog enic using a computational tool clinically validated by our laboratory. This too l's pathogenic prediction is estimated to be correct 94% of the time (Jordan 201 1). In summary, while there is some suspicion for a pathogenic role, the clinica l significance of the p.Arg1359Ser variant is uncertain.

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

Last Updated: Sep 29, 2024