NM_000257.4(MYH7):c.789A>G (p.Ile263Met) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 26, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000223688.1

Allele description [Variation Report for NM_000257.4(MYH7):c.789A>G (p.Ile263Met)]

NM_000257.4(MYH7):c.789A>G (p.Ile263Met)

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.789A>G (p.Ile263Met)
HGVS:
  • NC_000014.9:g.23431425T>C
  • NG_007884.1:g.9237A>G
  • NM_000257.4:c.789A>GMANE SELECT
  • NP_000248.2:p.Ile263Met
  • LRG_384t1:c.789A>G
  • LRG_384:g.9237A>G
  • NC_000014.8:g.23900634T>C
  • NM_000257.2:c.789A>G
  • NM_000257.3:c.789A>G
  • P12883:p.Ile263Met
Protein change:
I263M
Links:
UniProtKB: P12883#VAR_042772; dbSNP: rs730880855
NCBI 1000 Genomes Browser:
rs730880855
Molecular consequence:
  • NM_000257.4:c.789A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000280381Stanford Center for Inherited Cardiovascular Disease, Stanford Universityno assertion criteria providedUncertain significance
(Aug 26, 2015)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot providednot providednot providedclinical testing

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000280381.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. MYH7 p.Ile263Met (c.789A>G) The variant has been seen in at least one case. This variant was reported for by van Driest et al (2004) in a patient from their American HCM cohort. We could find no other reports. There is no segregation or functional data available on the variant. In silico analysis with PolyPhen-2 predicts the variant to be probably damaging. The isoleucine at codon 263 is conserved across species, as are neighboring amino acids. Other variants have been reported in association with disease at this codon (p.Ile263Thr, which we consider likely disease causing) and a nearby codon (p.Gly256Glu). In total the variant has not been seen in ~5600 published controls and publicly available population datsets. There is no variation at codon 263 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~5500 Caucasian and African American individuals (as of 1/16/2012). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of 1/16/2012). The variant was not observed in the following published control samples: 200 (van Driest et al 2004).

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

Last Updated: Nov 27, 2021

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