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NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) AND Hypertrophic cardiomyopathy 1

Germline classification:
Benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000989185.1

Allele description [Variation Report for NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)]

NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)

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.4909G>A (p.Ala1637Thr)
Other names:
p.A1637T:GCC>ACC; NM_000257.3(MYH7):c.4909G>A
HGVS:
  • NC_000014.9:g.23416048C>T
  • NG_007884.1:g.24614G>A
  • NM_000257.4:c.4909G>AMANE SELECT
  • NP_000248.2:p.Ala1637Thr
  • LRG_384t1:c.4909G>A
  • LRG_384:g.24614G>A
  • NC_000014.8:g.23885257C>T
  • NM_000257.2:c.4909G>A
  • NM_000257.3:c.4909G>A
  • NR_126491.1:n.309C>T
  • c.4909G>A
Protein change:
A1637T
Links:
dbSNP: rs141122361
NCBI 1000 Genomes Browser:
rs141122361
Molecular consequence:
  • NM_000257.4:c.4909G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.309C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001139408Mendelics
criteria provided, single submitter

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

Citation Link

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Summary from all submissions

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

Details of each submission

From Mendelics, SCV001139408.1

#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: Oct 26, 2024