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NM_000257.4(MYH7):c.3241A>G (p.Lys1081Glu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 2012
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:
RCV000158598.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3241A>G (p.Lys1081Glu)]

NM_000257.4(MYH7):c.3241A>G (p.Lys1081Glu)

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.3241A>G (p.Lys1081Glu)
Other names:
p.K1081E:AAA>GAA
HGVS:
  • NC_000014.9:g.23422184T>C
  • NG_007884.1:g.18478A>G
  • NM_000257.4:c.3241A>GMANE SELECT
  • NP_000248.2:p.Lys1081Glu
  • LRG_384t1:c.3241A>G
  • LRG_384:g.18478A>G
  • NC_000014.8:g.23891393T>C
  • NM_000257.2:c.3241A>G
  • NM_000257.3:c.3241A>G
Protein change:
K1081E
Links:
dbSNP: rs730880771
NCBI 1000 Genomes Browser:
rs730880771
Molecular consequence:
  • NM_000257.4:c.3241A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208533GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 30, 2012) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208533.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Lys1081Glu (AAA>GAA): c.3241 A>G in exon 25 of the MYH7 gene (NM_000257.2). The Lys1081Glu variant in the MYH7 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Lys1081Glu results in a non-conservative amino acid substitution of a positively charged Lysine with a negatively charged Glutamic acid at a residue that is conserved across species. The NHLBI ESP Exome Variant Server reports Lys1081Glu was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, data from control individuals of other ethnic backgrounds were not available to assess for a population-specific benign variant. In summary, the clinical significance of the Lys1081Glu variant in the MYH7 gene is currently unknown. The variant is found in HCM panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024