NM_000257.4(MYH7):c.2923-5G>A AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 21, 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:: RCV002436272.3

Allele description [Variation Report for NM_000257.4(MYH7):c.2923-5G>A]

NM_000257.4(MYH7):c.2923-5G>A

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.2923-5G>A

HGVS:

NC_000014.9:g.23423728C>T
NG_007884.1:g.16934G>A
NM_000257.4:c.2923-5G>AMANE SELECT
LRG_384t1:c.2923-5G>A
LRG_384:g.16934G>A
NC_000014.8:g.23892937C>T
NM_000257.2:c.2923-5G>A
NM_000257.3:c.2923-5G>A

Links:

dbSNP: rs779010466

NCBI 1000 Genomes Browser:

rs779010466

Molecular consequence:

NM_000257.4:c.2923-5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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AAP33703 (0)
Conserved Domains
RNA polymerase subunit sigma-24 [Enterobacter ludwigii]
RNA polymerase subunit sigma-24 [Enterobacter ludwigii]
gi|1072800303|gnl|PRJNA343411|BH714 0|gb|AOT46174.1|

Protein
JGI_XZT31581.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7607905 5'...
JGI_XZT31581.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7607905 5', mRNA sequence
gi|74087170|gnl|dbEST|31252544|gb|C 11.2|

Nucleotide
daj35g10.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078587 5' similar to ...
daj35g10.y1 NICHD_XGC_OO1 Xenopus laevis cDNA clone IMAGE:5078587 5' similar to TR:Q9W0B4 Q9W0B4 CG13920 PROTEIN, mRNA sequence
gi|16439485|gnl|dbEST|10021807|gb|B 11.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002748425	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002748425

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 21, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002748425.3

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

Description

The c.2923-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 22 in the MYH7 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Oct 8, 2024

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