NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Dec 14, 2014
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:: RCV000036065.14

Allele description [Variation Report for NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)]

NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)

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.1854G>A (p.Leu618=)

HGVS:

NC_000011.10:g.77172804G>A
NG_009086.2:g.49559G>A
NM_000260.4:c.1854G>AMANE SELECT
NM_001127180.2:c.1854G>A
NM_001369365.1:c.1821G>A
NP_000251.3:p.Leu618=
NP_001120652.1:p.Leu618=
NP_001356294.1:p.Leu607=
LRG_1420t1:c.1854G>A
LRG_1420:g.49559G>A
LRG_1420p1:p.Leu618=
NC_000011.9:g.76883850G>A
NG_009086.1:g.49541G>A
NM_000260.3:c.1854G>A
c.1854G>A
p.Leu618Leu

Links:

dbSNP: rs35429535

NCBI 1000 Genomes Browser:

rs35429535

Molecular consequence:

NM_000260.4:c.1854G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127180.2:c.1854G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001369365.1:c.1821G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000059717	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Dec 21, 2011)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000226411	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Dec 14, 2014)	germline	clinical testing	Citation Link,
SCV001920827	Clinical Genetics, Academic Medical Center - 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

SCV000059717

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Dec 21, 2011)

germline

clinical testing

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

SCV000226411

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Dec 14, 2014)

germline

clinical testing

Citation Link,

SCV001920827

Clinical Genetics, Academic Medical Center - 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	not provided	14	14	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical 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, SCV000059717.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	14	not provided	not provided	clinical testing	PubMed (1)

Description

Leu618Leu in exon 16 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (28/6652) of chro mosomes from a broad, though clinically unspecified European American population and 0.1% (5/3382) of chromosomes from a broad, though clinically unspecified Af rican American population (dbSNP rs35429535).

#	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		14	not provided	14	not provided

From Eurofins Ntd Llc (ga), SCV000226411.5

#	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 Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001920827.1

#	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: Oct 20, 2024

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