NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Mar 20, 2013
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:: RCV000036237.7

Allele description [Variation Report for NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)]

NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)

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.6519C>T (p.Asn2173=)

Other names:

p.N2173N:AAC>AAT

HGVS:

NC_000011.10:g.77213940C>T
NG_009086.2:g.90695C>T
NM_000260.4:c.6519C>TMANE SELECT
NM_001127180.2:c.6399C>T
NM_001369365.1:c.6372C>T
NP_000251.3:p.Asn2173=
NP_001120652.1:p.Asn2133=
NP_001356294.1:p.Asn2124=
LRG_1420t1:c.6519C>T
LRG_1420:g.90695C>T
LRG_1420p1:p.Asn2173=
NC_000011.9:g.76924985C>T
NG_009086.1:g.90676C>T
NM_000260.3:c.6519C>T
c.6519C>T
p.Asn2173Asn

Links:

dbSNP: rs111033230

NCBI 1000 Genomes Browser:

rs111033230

Molecular consequence:

NM_000260.4:c.6519C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001127180.2:c.6399C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001369365.1:c.6372C>T - 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
SCV000059889	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jun 23, 2009)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10094549, 9382091, 16470552, 24033266
SCV000170599	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Mar 20, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059889

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jun 23, 2009)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV000170599

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Mar 20, 2013)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	71	71	not provided	not provided	not provided	clinical testing

Citations

PubMed

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke AR, Meins M, Sadeghi M, Grundmann K, Apfelstedt-Sylla E, Zrenner E, Rosenberg T, Gal A.

Hum Mutat. 1999;13(2):133-40.

PubMed [citation]

PMID:: 10094549

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

See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059889.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	71	not provided	not provided	clinical testing	PubMed (4)

#	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		71	not provided	71	not provided

From GeneDx, SCV000170599.9

#	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

Last Updated: Dec 22, 2024

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