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NM_000257.4(MYH7):c.1350G>T (p.Lys450Asn) AND Hypertrophic cardiomyopathy 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 22, 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:
RCV002250998.1

Allele description [Variation Report for NM_000257.4(MYH7):c.1350G>T (p.Lys450Asn)]

NM_000257.4(MYH7):c.1350G>T (p.Lys450Asn)

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.1350G>T (p.Lys450Asn)
HGVS:
  • NC_000014.9:g.23429012C>A
  • NG_007884.1:g.11650G>T
  • NM_000257.4:c.1350G>TMANE SELECT
  • NP_000248.2:p.Lys450Asn
  • LRG_384:g.11650G>T
  • NC_000014.8:g.23898221C>A
Protein change:
K450N
Links:
dbSNP: rs1555338319
NCBI 1000 Genomes Browser:
rs1555338319
Molecular consequence:
  • NM_000257.4:c.1350G>T - missense variant - [Sequence Ontology: SO:0001583]
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0025213093billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 22, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R.

Clin Chim Acta. 2005 Jan;351(1-2):209-16.

PubMed [citation]
PMID:
15563892

Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy.

Chung H, Kim Y, Cho SM, Lee HJ, Park CH, Kim JY, Lee SH, Min PK, Yoon YW, Lee BK, Kim WS, Hong BK, Kim TH, Rim SJ, Kwon HM, Choi EY, Lee KA.

Mitochondrion. 2020 Jul;53:48-56. doi: 10.1016/j.mito.2020.04.010. Epub 2020 May 4.

PubMed [citation]
PMID:
32380161
See all PubMed Citations (4)

Details of each submission

From 3billion, SCV002521309.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. This missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.71; 3Cnet: 0.75). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with MYH7 related disorder (PMID: 32380161). Different missense changes at the same codon (p.Lys450Glu, p.Lys450Thr) have been reported to be associated with MYH7 related disorder (PMID: 10065021, 15563892). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023