NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Oct 28, 2019
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:: RCV000036244.8

Allele description [Variation Report for NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)]

NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)

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.6640G>A (p.Gly2214Ser)

HGVS:

NC_000011.10:g.77214688G>A
NG_009086.2:g.91443G>A
NM_000260.4:c.6640G>AMANE SELECT
NM_001127180.2:c.6520G>A
NM_001369365.1:c.6493G>A
NP_000251.3:p.Gly2214Ser
NP_001120652.1:p.Gly2174Ser
NP_001356294.1:p.Gly2165Ser
LRG_1420t1:c.6640G>A
LRG_1420:g.91443G>A
LRG_1420p1:p.Gly2214Ser
NC_000011.9:g.76925733G>A
NG_009086.1:g.91424G>A
NM_000260.3:c.6640G>A
c.6640G>A

Protein change:

G2165S

Links:

dbSNP: rs111033231

NCBI 1000 Genomes Browser:

rs111033231

Molecular consequence:

NM_000260.4:c.6640G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.6520G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.6493G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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RecName: Full=Kinetochore protein Spc24; Short=hSpc24
RecName: Full=Kinetochore protein Spc24; Short=hSpc24
gi|2203400709|sp|Q8NBT2.3|SPC24_HUM

Protein
Chaperone protein dnaK [Cellulophaga algicola DSM 14237]
Chaperone protein dnaK [Cellulophaga algicola DSM 14237]
gi|319423548|gnl|jgi|Celal_3392|gb| 657.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000059896	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jan 10, 2011)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000729227	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Oct 23, 2017)	germline	clinical testing	Citation Link,
SCV001476555	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Oct 28, 2019)	unknown	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

SCV000059896

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jan 10, 2011)

germline

clinical testing

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

SCV000729227

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Oct 23, 2017)

germline

clinical testing

Citation Link,

SCV001476555

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Oct 28, 2019)

unknown

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	31	30	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059896.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	31	not provided	not provided	clinical testing	PubMed (1)

Description

Gly2214Ser in exon 49 of MYO7A: This variant is not expected to have clinical si gnificance because this amino acid is not conserved in other species. This amino acid is a serine in elephant, platypus, chicken, lizard, frog, and stickleback. In addition, this variant has also been identified by our laboratory in ~20% of Black probands.

#	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		31	not provided	30	not provided

From GeneDx, SCV000729227.1

#	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 Athena Diagnostics, SCV001476555.1

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

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

Last Updated: Sep 29, 2024

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