NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) AND First degree atrioventricular block

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 2015
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:: RCV000208040.3

Allele description [Variation Report for NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)]

NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)

HGVS:

NC_000014.9:g.23416240C>T
NG_007884.1:g.24422G>A
NM_000257.4:c.4717G>AMANE SELECT
NP_000248.2:p.Glu1573Lys
LRG_384t1:c.4717G>A
LRG_384:g.24422G>A
NC_000014.8:g.23885449C>T
NM_000257.2:c.4717G>A
NM_000257.3:c.4717G>A
NR_126491.1:n.501C>T
P12883:p.Glu1573Lys

Protein change:

E1573K

Links:

UniProtKB: P12883#VAR_073884; dbSNP: rs750987717

NCBI 1000 Genomes Browser:

rs750987717

Molecular consequence:

NM_000257.4:c.4717G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.501C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: First degree atrioventricular block
Identifiers:: MONDO: MONDO:0000466; MedGen: C0085614; Human Phenotype Ontology: HP:0011705

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264094	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Uncertain significance (Aug 27, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264094

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Uncertain significance
(Aug 27, 2015)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S.

Circ Cardiovasc Genet. 2011 Feb;4(1):43-50. doi: 10.1161/CIRCGENETICS.110.957985. Epub 2010 Dec 2.

PubMed [citation]

PMID:: 21127202

Details of each submission

From Blueprint Genetics, SCV000264094.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 8, 2024

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