NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) AND not specified

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Dec 8, 2016
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:: RCV000036165.21

Allele description [Variation Report for NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)]

NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)

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.4805G>A (p.Arg1602Gln)

HGVS:

NC_000011.10:g.77199771G>A
NG_009086.2:g.76526G>A
NM_000260.4:c.4805G>AMANE SELECT
NM_001127180.2:c.4691G>A
NM_001369365.1:c.4658G>A
NP_000251.3:p.Arg1602Gln
NP_000251.3:p.Arg1602Gln
NP_001120652.1:p.Arg1564Gln
NP_001356294.1:p.Arg1553Gln
LRG_1420t1:c.4805G>A
LRG_1420:g.76526G>A
LRG_1420p1:p.Arg1602Gln
NC_000011.9:g.76910816G>A
NG_009086.1:g.76507G>A
NM_000260.3:c.4805G>A
Q13402:p.Arg1602Gln
c.4805G>A

Protein change:

R1553Q

Links:

UniProtKB: Q13402#VAR_009340; dbSNP: rs139889944

NCBI 1000 Genomes Browser:

rs139889944

Molecular consequence:

NM_000260.4:c.4805G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.4691G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.4658G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059817	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Dec 7, 2012)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9718356, 24033266
SCV000702938	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Dec 8, 2016)	germline	clinical testing	Citation Link,
SCV001953718	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059817

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Dec 7, 2012)

germline

clinical testing

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

SCV000702938

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Dec 8, 2016)

germline

clinical testing

Citation Link,

SCV001953718

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Benign

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	9	9	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD.

Am J Hum Genet. 1998 Sep;63(3):909-12. No abstract available.

PubMed [citation]

PMID:: 9718356
PMCID:: PMC1377414

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, SCV000059817.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	PubMed (2)

Description

p.Arg1602Gln in exon 35 of MYO7A: This variant is not expect to have clinical si gnificance because it has been identified in 4.4% (377/8484) of East Asian chrom osomes including 7 homozygotes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs139889944). This variant was reported in 2 ind ividuals with Usher syndrome (Liu 1998, Weston 1998). It was reported in trans with p.Leu651Pro in MYO7A of uncertain significance in two affected siblings (Li u 1998) and to be homozygous in another individual (Weston 1998), which is consi stent with its allele frequency in the general population and insufficient to su pport pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		9	not provided	9	not provided

From Eurofins Ntd Llc (ga), SCV000702938.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953718.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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