NM_020884.7(MYH7B):c.198+1G>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 15, 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:: RCV002585122.3

Allele description [Variation Report for NM_020884.7(MYH7B):c.198+1G>A]

NM_020884.7(MYH7B):c.198+1G>A

Gene:

MYH7B:myosin heavy chain 7B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.22

Genomic location:

Preferred name:

NM_020884.7(MYH7B):c.198+1G>A

HGVS:

NC_000020.11:g.34979497G>A
NG_016984.2:g.28597G>A
NM_020884.7:c.198+1G>AMANE SELECT
NC_000020.10:g.33567300G>A

Molecular consequence:

NM_020884.7:c.198+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003489434	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Nov 15, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16199547, 36703223, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003489434

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Nov 15, 2023)

germline

clinical testing

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
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

The genomic landscape of rare disorders in the Middle East.

El Naofal M, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, Taylor A, Jain R, Halabi N, Yaslam S, Alfalasi R, Shenbagam S, Rabea F, Bitzan M, Yavuz L, Wafadari D, Abulhoul H, Shankar S, Al Maazmi M, Rizk R, Alloub Z, Elbashir H, et al.

Genome Med. 2023 Jan 27;15(1):5. doi: 10.1186/s13073-023-01157-8.

PubMed [citation]

PMID:: 36703223
PMCID:: PMC9881316

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003489434.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change affects a donor splice site in intron 6 of the MYH7B 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 MYH7B cause disease. This variant is present in population databases (rs375392993, gnomAD 0.05%). Disruption of this splice site has been observed in individual(s) with MYH7B-related conditions (PMID: 36703223). ClinVar contains an entry for this variant (Variation ID: 2174287). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

#	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

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