NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2016
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:: RCV000490328.1

Allele description [Variation Report for NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)]

NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)

Genes:

MYH8:myosin heavy chain 8 [Gene - OMIM - HGNC]
MYHAS:myosin heavy chain gene cluster antisense RNA [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_002472.3(MYH8):c.3874C>T (p.Arg1292Ter)

HGVS:

NC_000017.11:g.10398875G>A
NG_013015.1:g.28076C>T
NM_002472.3:c.3874C>TMANE SELECT
NP_002463.2:p.Arg1292Ter
NC_000017.10:g.10302192G>A
NM_002472.2:c.3874C>T

Protein change:

R1292*

Links:

dbSNP: rs150008607

NCBI 1000 Genomes Browser:

rs150008607

Molecular consequence:

NM_002472.3:c.3874C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Carney complex - trismus - pseudocamptodactyly syndrome
Synonyms:: Carney complex variant
Identifiers:: MONDO: MONDO:0012137; MedGen: C1837245; OMIM: 608837

Name:: Hecht syndrome (DA7)
Synonyms:: MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS; Arthrogryposis distal type 7; Dutch-Kentucky syndrome
Identifiers:: MONDO: MONDO:0008016; MedGen: C0265226; Orphanet: 3377; OMIM: 158300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267410	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (3) [See all records that cite these PMIDs] 18049072, 17041932, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267410

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asian	germline	unknown	2	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.

Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A.

Clin Dysmorphol. 2008 Jan;17(1):1-4. doi: 10.1097/MCD.0b013e3282efdad8.

PubMed [citation]

PMID:: 18049072

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ.

Am J Med Genet A. 2006 Nov 15;140(22):2387-93.

PubMed [citation]

PMID:: 17041932

See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267410.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	2	not provided	not provided	reference population	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Aug 25, 2024

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