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NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 3, 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:
RCV002334812.2

Allele description [Variation Report for NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)]

NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)

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.5037C>G (p.Asn1679Lys)
HGVS:
  • NC_000014.9:g.23415749G>C
  • NG_007884.1:g.24913C>G
  • NM_000257.4:c.5037C>GMANE SELECT
  • NP_000248.2:p.Asn1679Lys
  • LRG_384:g.24913C>G
  • NC_000014.8:g.23884958G>C
  • NM_000257.2:c.5037C>G
  • NR_126491.1:n.181G>C
Protein change:
N1679K
Links:
dbSNP: rs1358888752
NCBI 1000 Genomes Browser:
rs1358888752
Molecular consequence:
  • NM_000257.4:c.5037C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.181G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002641820Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 3, 2022)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.

Yamaguchi-Kabata Y, Yasuda J, Tanabe O, Suzuki Y, Kawame H, Fuse N, Nagasaki M, Kawai Y, Kojima K, Katsuoka F, Saito S, Danjoh I, Motoike IN, Yamashita R, Koshiba S, Saigusa D, Tamiya G, Kure S, Yaegashi N, Kawaguchi Y, Nagami F, Kuriyama S, et al.

J Hum Genet. 2018 Feb;63(2):213-230. doi: 10.1038/s10038-017-0347-1. Epub 2017 Dec 1.

PubMed [citation]
PMID:
29192238

Details of each submission

From Ambry Genetics, SCV002641820.2

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

Description

The p.N1679K variant (also known as c.5037C>G), located in coding exon 33 of the MYH7 gene, results from a C to G substitution at nucleotide position 5037. The asparagine at codon 1679 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in a population-based whole exome sequencing cohort; however, clinical histories were not provided (Yamaguchi-Kabata Y et al. J Hum Genet, 2018 Feb;63:213-230). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024