NM_000257.4(MYH7):c.2923-2A>C AND Hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 7, 2023
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:: RCV003870512.2

Allele description [Variation Report for NM_000257.4(MYH7):c.2923-2A>C]

NM_000257.4(MYH7):c.2923-2A>C

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.2923-2A>C

HGVS:

NC_000014.9:g.23423725T>G
NG_007884.1:g.16937A>C
NM_000257.4:c.2923-2A>CMANE SELECT
NM_001407004.1:c.2923-2A>C
LRG_384:g.16937A>C
NC_000014.8:g.23892934T>G

Molecular consequence:

NM_000257.4:c.2923-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407004.1:c.2923-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

Recent activity

Clear Turn Off Turn On

Rhynchocypris kumgangensis mitochondrion, complete genome
Rhynchocypris kumgangensis mitochondrion, complete genome
gi|426406169|ref|NC_019614.1|

Nucleotide
PREDICTED: Brassica rapa putative two-component response regulator ARR21 (LOC103...
PREDICTED: Brassica rapa putative two-component response regulator ARR21 (LOC103850647), transcript variant X2, mRNA
gi|1827684750|ref|XM_009127431.2|

Nucleotide
Myotis cf. davidii ZMB Mam 108525 voucher ZMB_Mam_108525 NADH dehydrogenase subu...
Myotis cf. davidii ZMB Mam 108525 voucher ZMB_Mam_108525 NADH dehydrogenase subunit 1 (ND1) gene, partial cds; mitochondrial
gi|1849899296|gb|MN707374.1|

Nucleotide
Zea mays Peroxidase superfamily protein (LOC100273055), mRNA
Zea mays Peroxidase superfamily protein (LOC100273055), mRNA
gi|1335348686|ref|NM_001360162.1|

Nucleotide
Rhynchocypris kumgangensis mitochondrial gene for 16S ribosomal RNA, partial seq...
Rhynchocypris kumgangensis mitochondrial gene for 16S ribosomal RNA, partial sequence, haplotype:RK-Pukhan
gi|93277013|dbj|AB100730.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004675460	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 7, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16199547, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004675460

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 7, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]

PMID:: 16199547
PMCID:: PMC1735933

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004675460.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 23 of the MYH7 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine