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NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
Mar 27, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000036074.20

Allele description [Variation Report for NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)]

NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)

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.2035G>A (p.Val679Ile)
HGVS:
  • NC_000011.10:g.77174855G>A
  • NG_009086.2:g.51610G>A
  • NM_000260.4:c.2035G>AMANE SELECT
  • NM_001127180.2:c.2035G>A
  • NM_001369365.1:c.2002G>A
  • NP_000251.3:p.Val679Ile
  • NP_001120652.1:p.Val679Ile
  • NP_001356294.1:p.Val668Ile
  • LRG_1420t1:c.2035G>A
  • LRG_1420:g.51610G>A
  • LRG_1420p1:p.Val679Ile
  • NC_000011.9:g.76885901G>A
  • NG_009086.1:g.51592G>A
  • NM_000260.3:c.2035G>A
  • Q13402:p.Val679Ile
  • c.2035G>A
Protein change:
V668I
Links:
UniProtKB: Q13402#VAR_056188; dbSNP: rs35641839
NCBI 1000 Genomes Browser:
rs35641839
Molecular consequence:
  • NM_000260.4:c.2035G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.2035G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.2002G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
22

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059726Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Benign
(Oct 27, 2009) 		germlineclinical testing

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

SCV000340212Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Mar 22, 2016) 		germlineclinical testing

Citation Link,

SCV000730514GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Benign
(Mar 27, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlinenot provided2222not providednot providednot providedclinical testing

Citations

PubMed

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration..

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

PubMed [citation]
PMID:
16679490
PMCID:
PMC2564578

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059726.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided22not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided22not provided22not provided

From Eurofins Ntd Llc (ga), SCV000340212.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000730514.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Oct 26, 2024