NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Mar 23, 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:: RCV000036137.11

Allele description [Variation Report for NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)]

NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)

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.4074C>T (p.Ser1358=)

Other names:

p.S1358S:TCC>TCT

HGVS:

NC_000011.10:g.77192200C>T
NG_009086.2:g.68955C>T
NM_000260.4:c.4074C>TMANE SELECT
NM_001127180.2:c.4074C>T
NM_001369365.1:c.4041C>T
NP_000251.3:p.Ser1358=
NP_001120652.1:p.Ser1358=
NP_001356294.1:p.Ser1347=
LRG_1420t1:c.4074C>T
LRG_1420:g.68955C>T
LRG_1420p1:p.Ser1358=
NC_000011.9:g.76903245C>T
NG_009086.1:g.68936C>T
NM_000260.3:c.4074C>T
c.4074C>T
p.Ser1358Ser

Links:

dbSNP: rs78996818

NCBI 1000 Genomes Browser:

rs78996818

Molecular consequence:

NM_000260.4:c.4074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127180.2:c.4074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001369365.1:c.4041C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059789	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jul 13, 2010)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9382091, 24033266
SCV000170590	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Dec 19, 2013)	germline	clinical testing	Citation Link,
SCV000340410	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Mar 23, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059789

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jul 13, 2010)

germline

clinical testing

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

SCV000170590

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Dec 19, 2013)

germline

clinical testing

Citation Link,

SCV000340410

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Mar 23, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	34	34	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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B.

Am J Hum Genet. 1997 Oct;61(4):813-21.

PubMed [citation]

PMID:: 9382091
PMCID:: PMC1716000

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, SCV000059789.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	34	not provided	not provided	clinical testing	PubMed (2)

Description

Ser1358Ser in exon 31 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and it occurs at an equal frequency in probands and the genera l population (Adato 1997, Janecke 1999, Jaijo 2006).

#	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		34	not provided	34	not provided

From GeneDx, SCV000170590.9

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

#	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

From Eurofins Ntd Llc (ga), SCV000340410.4

#	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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine