NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 19, 2018
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:: RCV000035938.8

Allele description [Variation Report for NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)]

NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)

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.4909G>A (p.Ala1637Thr)

Other names:

p.A1637T:GCC>ACC; NM_000257.3(MYH7):c.4909G>A

HGVS:

NC_000014.9:g.23416048C>T
NG_007884.1:g.24614G>A
NM_000257.4:c.4909G>AMANE SELECT
NP_000248.2:p.Ala1637Thr
LRG_384t1:c.4909G>A
LRG_384:g.24614G>A
NC_000014.8:g.23885257C>T
NM_000257.2:c.4909G>A
NM_000257.3:c.4909G>A
NR_126491.1:n.309C>T
c.4909G>A

Protein change:

A1637T

Links:

dbSNP: rs141122361

NCBI 1000 Genomes Browser:

rs141122361

Molecular consequence:

NM_000257.4:c.4909G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_126491.1:n.309C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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zinc finger protein 747 isoform 3 [Homo sapiens]
zinc finger protein 747 isoform 3 [Homo sapiens]
gi|13027594|ref|NP_076420.1|

Protein
Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcrip...
Homo sapiens FXYD domain containing ion transport regulator 3 (FXYD3), transcript variant 1, mRNA
gi|1677539286|ref|NM_005971.4|

Nucleotide
Homo sapiens rearranged immunoglobulin heavy chain variable region (ML6-VH4) mRN...
Homo sapiens rearranged immunoglobulin heavy chain variable region (ML6-VH4) mRNA, partial cds
gi|2232222|gb|AF004936.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059589	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Jul 19, 2018)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20624503, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059589

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Jul 19, 2018)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	4	3	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk PS, Da Costa A, Prieur F, Bresson JL, Faivre L, Eicher JC, Chassaing N, Crehalet H, Porcher R, Rodriguez-Lafrasse C, Rousson R.

Eur J Med Genet. 2010 Sep-Oct;53(5):261-7. doi: 10.1016/j.ejmg.2010.07.007. Epub 2010 Jul 30.

PubMed [citation]

PMID:: 20624503

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, SCV000059589.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (2)

Description

Ala1637Thr in exon34 of MYH7: This variant is not expected to have clinical sign ificance due to a lack of evolutionary conservation of the affected amino acid ( of note, 5 mammalian species have a threonine (Thr) at this position despite hig h nearby amino acid conservation). In addition, this variant was predicted to be benign using a computational tool clinically validated by our laboratory. This tool's benign prediction is estimated to be correct 89% of the time (Jordan 2011 ). It has also been identified in 5/10402 African American chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14112 2361).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		4	not provided	3	not provided

Last Updated: Oct 13, 2024

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