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NM_000257.4(MYH7):c.3100-2A>C AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2022
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:
RCV001823754.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3100-2A>C]

NM_000257.4(MYH7):c.3100-2A>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.3100-2A>C
HGVS:
  • NC_000014.9:g.23422327T>G
  • NG_007884.1:g.18335A>C
  • NM_000257.4:c.3100-2A>CMANE SELECT
  • NM_001407004.1:c.3100-2A>C
  • LRG_384:g.18335A>C
  • NC_000014.8:g.23891536T>G
  • NC_000014.8:g.23891536T>G
  • NM_000257.3:c.3100-2A>C
Links:
dbSNP: rs759013925
NCBI 1000 Genomes Browser:
rs759013925
Molecular consequence:
  • NM_000257.4:c.3100-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407004.1:c.3100-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073422Phosphorus, Inc.
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jan 19, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Phosphorus, Inc., SCV002073422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This splice-acceptor variant is located -2 bp away from the canonical splice-site in intron 24 out of 39 total introns of the MYH7 gene. This variant has an entry in ClinVar (919218) NM_000257.4 (MYH7): c.3100-2A>C and has occurred in GnomAD with a total MAF of 0.0016% and highest MAF of 0.0036% in the European population. This position is conserved. In silico splicing algorithms predicted that this variant will impact splicing (dbscSNV = 0.9279, MaxEntScan = 183.565% difference) and defective splicing in the MYH7 gene has previously been associated with hypertrophic cardiomyopathy and dilated cardiomyopathy (PMID: 32079122, 20124440). This variant has previously been reported in an individual affected with dilated cardiomyopathy (PMID: 29517769). Further evidence is needed to establish whether this variant contributes to disease formation. It has therefore been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024