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NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) AND Hypertrophic cardiomyopathy 1

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 28, 2019
Review status:
criteria provided, conflicting classifications
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:
RCV000201468.5

Allele description [Variation Report for NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)]

NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)

Genes:
LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
HGVS:
  • NC_000014.9:g.23415794G>T
  • NG_007884.1:g.24868C>A
  • NM_000257.4:c.4992C>AMANE SELECT
  • NP_000248.2:p.Asn1664Lys
  • LRG_384t1:c.4992C>A
  • LRG_384:g.24868C>A
  • NC_000014.8:g.23885003G>T
  • NM_000257.2:c.4992C>A
  • NM_000257.3:c.4992C>A
  • NR_126491.1:n.226G>T
Protein change:
N1664K
Links:
dbSNP: rs763538103
NCBI 1000 Genomes Browser:
rs763538103
Molecular consequence:
  • NM_000257.4:c.4992C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.226G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256129Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)
criteria provided, single submitter

(LGCM Criteria August 2015)
Likely pathogenicgermlineclinical testing

LGCM_Criteria_August_2015,

Citation Link,

SCV001139407Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256129.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Mendelics, SCV001139407.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024