NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer) AND Rare genetic deafness

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 14, 2012
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000036063.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer)]

NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.1833_1838dup (p.Ser612_Gln613insHisSer)

Other names:

p.Ser612_Gln613insHisSer

HGVS:

NC_000011.10:g.77172783_77172788dup
NG_009086.2:g.49538_49543dup
NM_000260.4:c.1833_1838dupMANE SELECT
NM_001127180.2:c.1833_1838dup
NM_001369365.1:c.1800_1805dup
NP_000251.3:p.Ser612_Gln613insHisSer
NP_001120652.1:p.Ser612_Gln613insHisSer
NP_001356294.1:p.Ser601_Gln602insHisSer
LRG_1420t1:c.1833_1838dup
LRG_1420:g.49538_49543dup
LRG_1420p1:p.Ser612_Gln613insHisSer
NC_000011.9:g.76883829_76883834dup
NC_000011.9:g.76883834_76883835insCAGCCA
NM_000260.3:c.1833_1838dupCAGCCA
c.1833_1838dupCAGCCA

Links:

dbSNP: rs397516290

NCBI 1000 Genomes Browser:

rs397516290

Molecular consequence:

NM_000260.4:c.1833_1838dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127180.2:c.1833_1838dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369365.1:c.1800_1805dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059715	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (May 14, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000059715

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(May 14, 2012)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	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, SCV000059715.6

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

Description

The Ser612_Gln613insHisSer variant (MYO7A) has not been reported in the literatu re nor previously reported by our laboratory. This variant results in an in-fram e insertion of two amino acids (Histidine and Serine) between position 612 and 6 13. Although more information is needed to fully assess the clinical significanc e of the Ser612_Gln613insHisSer variant, the addition of two amino acids is like ly to deleteriously impact protein function. This assumption, along with the ide ntification of this variant in a patient with Usher syndrome and another pathoge nic variant suggests this variant is likely pathogenic.

#	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		1	not provided	1	not provided

Last Updated: Dec 24, 2023

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