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NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 15, 2016
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:
RCV000222692.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)]

NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
HGVS:
  • NC_000011.10:g.77174765C>T
  • NG_009086.2:g.51520C>T
  • NM_000260.4:c.1945C>TMANE SELECT
  • NM_001127180.2:c.1945C>T
  • NM_001369365.1:c.1912C>T
  • NP_000251.3:p.Arg649Trp
  • NP_001120652.1:p.Arg649Trp
  • NP_001356294.1:p.Arg638Trp
  • LRG_1420t1:c.1945C>T
  • LRG_1420:g.51520C>T
  • LRG_1420p1:p.Arg649Trp
  • NC_000011.9:g.76885811C>T
  • NG_009086.1:g.51502C>T
  • NM_000260.3:c.1945C>T
Protein change:
R638W
Links:
dbSNP: rs782503314
NCBI 1000 Genomes Browser:
rs782503314
Molecular consequence:
  • NM_000260.4:c.1945C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1945C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1912C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000272147Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Jan 15, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, et al.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.

PubMed [citation]
PMID:
16963483
PMCID:
PMC2598068

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, SCV000272147.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Arg649Trp variant in MYO7A has been reported in one paper without clinical information (Cremers 2007) and has been identified in 1/24258 European chromoso mes and 1/2556 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the gen eral population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that the p.Arg 649Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg649Trp variant is uncertain.

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

Last Updated: Sep 29, 2024