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NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2015
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:
RCV000220338.4

Allele description [Variation Report for NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)]

NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)

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.4832C>T (p.Ala1611Val)
HGVS:
  • NC_000014.9:g.23416125G>A
  • NG_007884.1:g.24537C>T
  • NM_000257.4:c.4832C>TMANE SELECT
  • NP_000248.2:p.Ala1611Val
  • LRG_384t1:c.4832C>T
  • LRG_384:g.24537C>T
  • NC_000014.8:g.23885334G>A
  • NM_000257.2:c.4832C>T
  • NM_000257.3:c.4832C>T
  • NR_126491.1:n.386G>A
Protein change:
A1611V
Links:
dbSNP: rs757090529
NCBI 1000 Genomes Browser:
rs757090529
Molecular consequence:
  • NM_000257.4:c.4832C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.386G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000272053Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 12, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000272053.2

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

Description

The p.Ala1611Val variant in MYH7 has not been previously reported in individuals with cardiomyopathy and data from large population studies is insufficient to a ssess the frequency of this variant. Computational prediction tools and conserva tion analysis do not provide strong support for or against an impact to the prot ein. In summary, the clinical significance of the p.Ala1611Val variant is uncert ain.

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

Last Updated: Sep 29, 2024