NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) AND Inborn genetic diseases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 8, 2017
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:: RCV001266493.2

Allele description [Variation Report for NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])]

NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3])

HGVS:

NC_000014.9:g.23420202CTCCAGCTCCTC[3]
NG_007884.1:g.20438AGGAGCTGGAGG[3]
NM_000257.4:c.3347AGGAGCTGGAGG[3]MANE SELECT
NP_000248.2:p.1116EELE[3]
LRG_384t1:c.3359_3370dup
LRG_384:g.20438AGGAGCTGGAGG[3]
NC_000014.8:g.23889409_23889410insCCTCCAGCTCCT
NC_000014.8:g.23889411CTCCAGCTCCTC[3]
NM_000257.2:c.3359_3370dupAGGAGCTGGAGG
NM_000257.3:c.3359_3370dup
NM_000257.3:c.3359_3370dup12

Links:

dbSNP: rs1064792935

NCBI 1000 Genomes Browser:

rs1064792935

Molecular consequence:

NM_000257.4:c.3347AGGAGCTGGAGG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001444668	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Dec 8, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001444668

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Dec 8, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001444668.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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